| 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 |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
| Arterial Dissection With Lentiginosis |
|
Arterial dissection, Cystic medial necrosis |
OMIM:600459 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Rheumatoid factor positive, Recurrent... |
OMIM:620321 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating... |
OMIM:614470 |
| Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... |
OMIM:267500 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Antineutrophil antibody positivity, Sepsis, Severe infection, Neutropenia in presence ... |
ORPHA:464370 |
| Immunodeficiency 46 |
|
Sepsis, Conjunctivitis, Recurrent sinopulmonary infections, Neutropenia, Meningitis, Anemia, Inte... |
OMIM:616740 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Agammaglobulinemia, Monocytosis, Recurrent infections, Decreas... |
OMIM:615592 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec... |
ORPHA:2688 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int... |
OMIM:619281 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... |
OMIM:301082 |
| Immunodeficiency 66 |
|
Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections |
OMIM:618847 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... |
OMIM:243700 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Autoimmunity, Otit... |
ORPHA:229717 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutro... |
ORPHA:231154 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... |
ORPHA:331235 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... |
OMIM:616871 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
| 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 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Antineutrophil antibody positivity, Recurrent viral infections, Aplastic anemia, Leuke... |
ORPHA:486 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
| Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm... |
ORPHA:83471 |
| Reticular Dysgenesis |
|
Sepsis, Abnormality of neutrophils, Leukopenia, Skin rash, Anemia, Recurrent respiratory infectio... |
ORPHA:33355 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... |
OMIM:132900 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... |
ORPHA:436159 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:615122 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... |
ORPHA:183675 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
ORPHA:169154 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
| Bullous Impetigo |
|
Pustule, Sepsis, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Pgm3-Cdg |
|
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ... |
ORPHA:443811 |
| Hypertriglyceridemia 1 |
|
Precocious atherosclerosis |
OMIM:145750 |
| Immunodeficiency 32B |
|
Pneumonia, Recurrent respiratory infections, BCGitis, Impaired oxidative burst, Abnormal circulat... |
OMIM:226990 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur... |
ORPHA:47612 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Foam cells with lamellar inclusion bodies, Splenomegaly, Thrombocytopenia... |
OMIM:607616 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... |
OMIM:613495 |
| Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, A... |
OMIM:612260 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Autosomal Agammaglobulinemia |
|
Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag... |
ORPHA:33110 |
| Sea-Blue Histiocyte Disease |
|
Foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Type IV atherosclerotic lesion |
OMIM:144300 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... |
OMIM:615206 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Opportunistic infection, Atherosc... |
ORPHA:494424 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i... |
OMIM:300299 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Atherosclerosis |
ORPHA:2724 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... |
ORPHA:444463 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Autoimmunity, ... |
OMIM:609529 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Sepsis, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, Skin rash, A... |
ORPHA:47 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Recurrent lower respirato... |
OMIM:308230 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, ... |
ORPHA:169090 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... |
OMIM:614172 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... |
OMIM:137100 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Abscess, Autoimmune hemolytic anemia, Decre... |
OMIM:619374 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Sepsis, Opportunistic infection, Periodontitis, Lymphopenia, Cyclic neutro... |
ORPHA:2686 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent otitis media, Absent neutrophil specific granules, Anemia,... |
OMIM:617475 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... |
OMIM:618935 |
| C1Q Deficiency 1 |
|
Recurrent infections, Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus eryt... |
OMIM:613652 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent... |
OMIM:300755 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Hemophagocytosis, Severe viral infection, Hepatosplenomegaly, Monocytosis, B... |
OMIM:619644 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Rec... |
OMIM:612840 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Recurrent viral infections, Eczematoid dermatitis, Hepatitis, ... |
OMIM:620565 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:608320 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis |
OMIM:216950 |
| Omenn Syndrome |
|
Pneumonia, Sepsis, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Eosi... |
ORPHA:39041 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233710 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ... |
OMIM:256500 |
| Scedosporiosis |
|
Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Invasive fungal infection, Sept... |
ORPHA:449280 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Foam cells |
OMIM:245900 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Neutropenia, Recurrent lower respiratory tract infections, Paten... |
OMIM:612541 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233690 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th... |
ORPHA:277 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Decreased proportion of... |
OMIM:301000 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Bone marrow hypocellularity, Abnormal proportion of naive CD4 ... |
ORPHA:1830 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... |
ORPHA:275 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
| Panbronchiolitis, Diffuse |
|
Foam cells |
OMIM:604809 |
| Apolipoprotein A-I Deficiency |
|
Premature coronary artery atherosclerosis, Atherosclerosis |
ORPHA:425 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Chronic Granulomatous Disease |
|
Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, Sinusitis,... |
ORPHA:379 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... |
ORPHA:51636 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Autoimmunity, Anem... |
ORPHA:169079 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Impa... |
OMIM:240500 |
| Congenital Enterovirus Infection |
|
Sepsis, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Skin rash, Infectiou... |
ORPHA:292 |
| Bacterial Toxic-Shock Syndrome |
|
Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peri... |
ORPHA:36234 |
| Fish-Eye Disease |
|
Atherosclerosis |
ORPHA:79292 |
| Melioidosis |
|
Pneumonia, Sepsis, Brain abscess, Cutaneous abscess, Unusual skin infection, Foot osteomyelitis, ... |
ORPHA:31202 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Sepsis, Arteritis, Acne inversa, Herpes simplex enc... |
OMIM:233600 |
| Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation |
OMIM:260570 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Atherosclerosis |
OMIM:610842 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Lcat Deficiency |
|
Premature coronary artery atherosclerosis, Atherosclerosis |
ORPHA:650 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Pyomyositis |
|
Sepsis, Leukocytosis, Myositis, Recurrent infections, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Sepsis, Skin rash, Thrombocytopenia |
ORPHA:49566 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadeniti... |
OMIM:306400 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Sepsis, Leukopenia, Leukocytosis, Severe infection, Acute infectious pneumonia, Neutro... |
ORPHA:36238 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, A... |
ORPHA:397596 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Coronary artery atherosclerosis |
OMIM:618620 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Recurrent infections, Sepsis |
ORPHA:204 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Abnormal eosinophil morphology, Inflammation of the large intestine, Microcytic a... |
ORPHA:906 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... |
ORPHA:293978 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... |
OMIM:610163 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... |
OMIM:617780 |
| Rat-Bite Fever |
|
Sepsis, Lymphadenitis, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocar... |
ORPHA:31205 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Cherry red spot of the macula, Foam cells with lamella... |
OMIM:257200 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Increased circulating IgE level, Increased ci... |
ORPHA:449400 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... |
OMIM:618495 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Sepsis, Coombs-positive hemolytic anemia, Thrombocytosis, Asplenia, Hemolytic anemia |
OMIM:614034 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Autoimmune antibody positivity, Acute infectious pneumonia, Foam cells |
ORPHA:264675 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... |
OMIM:619375 |
| Gm1-Gangliosidosis, Type Iii |
|
Foam cells, Cherry red spot of the macula |
OMIM:230650 |
| Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
OMIM:176670 |
| Immunodeficiency 7 |
|
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... |
OMIM:615387 |
| Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody pos... |
OMIM:601859 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephaliti... |
ORPHA:549 |
| Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis |
OMIM:616833 |
| Ebola Hemorrhagic Fever |
|
Sepsis, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopeni... |
ORPHA:319218 |
| Generalized Pustular Psoriasis |
|
Sepsis, Lymphopenia, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Che... |
ORPHA:247353 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Sepsis, Pancreatitis |
ORPHA:70578 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos... |
ORPHA:331206 |
| Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Leukopenia, Anemia... |
OMIM:617053 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis |
OMIM:209010 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Premature coronary artery atherosclerosis |
OMIM:610947 |
| Avian Influenza |
|
Pneumonia, Myelitis, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Infectious encephalitis, Thrombo... |
ORPHA:454836 |
| Alg1-Cdg |
|
Recurrent infections, Sepsis |
ORPHA:79327 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma |
ORPHA:542592 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Nephritis, Recurrent pneumonia, Sepsis, Bone marrow hypocellularity, Leukopenia, Splenomegaly, An... |
OMIM:617303 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... |
OMIM:617006 |
| Cholesteryl Ester Storage Disease |
|
Arteriosclerosis |
ORPHA:75234 |
| Myeloperoxidase Deficiency |
|
Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
| Listeriosis |
|
Arteritis, Abscess, Pustule, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infect... |
ORPHA:533 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Inflammation of the large intestine, Decreased circulating Ig... |
ORPHA:98813 |
| Tangier Disease |
|
Coronary artery atherosclerosis, Atherosclerosis |
OMIM:205400 |
| Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
| Dysbetalipoproteinemia |
|
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Type IV atherosclerotic... |
ORPHA:412 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis |
ORPHA:140905 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis |
OMIM:619059 |
| Secondary Short Bowel Syndrome |
|
Sepsis, Enterocolitis, Atherosclerosis |
ORPHA:95427 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... |
ORPHA:811 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Arterial stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis |
ORPHA:1192 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Sepsis, Erythroderma, Chronic otitis media |
ORPHA:313 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atherosclerosis |
ORPHA:209902 |
| Calciphylaxis |
|
Sepsis, Arterial calcification |
ORPHA:280062 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Stroke, Abnorma... |
OMIM:242900 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Precocious atherosclerosis |
ORPHA:230839 |
| Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent infection of the gast... |
ORPHA:263501 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s... |
OMIM:214500 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Coronary artery atherosclerosis, Pancreatitis, Splenomegaly, Atherosclerosis |
ORPHA:2348 |
| Flynn-Aird Syndrome |
|
Atherosclerosis |
ORPHA:2047 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Atherosclerosis, Splenomegaly, Coronary artery atherosclerosis, Pancrea... |
ORPHA:79083 |
| Acatalasemia |
|
Microcytic anemia, Arteriosclerosis, Severe periodontitis |
ORPHA:926 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... |
ORPHA:98848 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Arteriosclerosis, Stroke-like episode |
ORPHA:199354 |
| Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
| Meningococcal Meningitis |
|
Stroke, Sepsis, Skin rash, Infectious encephalitis |
ORPHA:33475 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Classic Galactosemia |
|
Abnormal erythrocyte enzyme concentration or activity, Sepsis |
ORPHA:79239 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Hirschsprung Disease |
|
Sepsis |
ORPHA:388 |
| Radiation Proctitis |
|
Arteritis, Sepsis, Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, R... |
ORPHA:70475 |
| Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
| Acute Lung Injury |
|
Pneumonia, Sepsis, Acute pancreatitis |
ORPHA:178320 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Anticardiolipin IgG antibody positivity, Recurrent viral infections, Sepsis, ... |
OMIM:619573 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, A... |
OMIM:301078 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Splenomegaly, CNS foam cells, Foam cells, Bone-marrow foam cells |
OMIM:257220 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto... |
ORPHA:167 |
| Shigellosis |
|
Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, ... |
ORPHA:810 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Sepsis |
ORPHA:70587 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Coronary artery atherosclerosis |
ORPHA:79084 |
| Cryptococcosis |
|
Pneumonia, Sepsis, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Prostatitis, Perito... |
ORPHA:1546 |
| Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Sepsis, Hepatitis, Autoimmunity, Macrocytic anemia, Hashimoto thyroiditis, Eos... |
ORPHA:199299 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... |
OMIM:152700 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Medial calcification of medium-sized arteries, Cerebral h... |
OMIM:177850 |
| Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis |
OMIM:615703 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
| Alg12-Cdg |
|
Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Complete or near-complete absence of... |
ORPHA:79324 |
| Primary Hyperoxaluria Type 1 |
|
Anemia, Stroke, Atherosclerosis, Recurrent urinary tract infections |
ORPHA:93598 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... |
OMIM:613470 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Sepsis, Skin rash, Punctate vasculitis skin lesions, Normochromic a... |
ORPHA:247691 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Atherosclerosis |
ORPHA:1979 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... |
OMIM:617168 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... |
ORPHA:91387 |
| Kid Syndrome |
|
Sepsis, Posterior blepharitis, Folliculitis, Acne inversa, Recurrent candida infections, Keratiti... |
ORPHA:477 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Sepsis, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:614886 |
| Lassa Fever |
|
Conjunctivitis, Sepsis, Increased circulating IgM level |
ORPHA:99824 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Atherosclerosis, Splenomegaly, Coronary artery atherosclerosis, Pancreatitis, Precocious atherosc... |
ORPHA:280365 |
| Aorta Coarctation |
|
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... |
ORPHA:1457 |
| Autoimmune Hypoparathyroidism |
|
Chronic mucocutaneous candidiasis, Autoimmunity, Coronary artery atherosclerosis, Conjunctivitis,... |
ORPHA:36913 |
| Nocardiosis |
|
Pneumonia, Unusual CNS infection, Sepsis, Brain abscess, Cutaneous abscess, Lymphadenitis, Kerati... |
ORPHA:31204 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoim... |
ORPHA:760 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Coronary artery atherosclerosis |
OMIM:608600 |
| Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta |
OMIM:208060 |
| Sepsis In Premature Infants |
|
Invasive fungal infection, Leukocytosis, Splenomegaly, Severe infection, Enterocolitis, Neutropen... |
ORPHA:90051 |
| Bullous Pemphigoid |
|
Eczematoid dermatitis, Anti-BP180 antibody positivity, Psoriasiform dermatitis, Autoimmunity, Ant... |
ORPHA:703 |
| Developmental And Epileptic Encephalopathy 111 |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Sepsis |
OMIM:620504 |
| Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Splenomegaly, CNS foam cells, Foam cells, Bone-marrow foam cells |
OMIM:607625 |
| Pseudoxanthoma Elasticum |
|
Abnormal cerebral vascular morphology, Atherosclerosis, Arterial stenosis, Skin rash, Vascular di... |
ORPHA:758 |
| Homozygous Familial Hypercholesterolemia |
|
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormal internal carot... |
ORPHA:391665 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Sepsis, Hepatosplenomegaly, Leukope... |
ORPHA:505248 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Neonatal sepsis |
ORPHA:391673 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Cerebral hemorrhage |
ORPHA:280679 |
| Stevens-Johnson Syndrome |
|
Sepsis, Abnormality of neutrophils, Pancreatitis, Thrombocytopenia, Anemia, Conjunctivitis, Recur... |
ORPHA:36426 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:615758 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Severe infection, Sepsis |
ORPHA:505395 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Decrease... |
OMIM:615952 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Impaired platelet aggregation, Reticulocytosis, Splenomegaly, Co... |
OMIM:210250 |
| Werner Syndrome |
|
Pulmonary artery stenosis, Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:902 |
| Toxic Epidermal Necrolysis |
|
Sepsis, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Recurrent respirator... |
ORPHA:537 |
| Cholesteryl Ester Storage Disease |
|
Hepatic foam cells, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia... |
OMIM:278000 |
| Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
| Pseudoxanthoma Elasticum |
|
Stroke, Accelerated atherosclerosis, Coronary artery atherosclerosis |
OMIM:264800 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... |
ORPHA:100026 |
| Gapo Syndrome |
|
Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:2067 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Caroli Syndrome |
|
Sepsis, Hypersplenism, Leukopenia, Leukocytosis, Pancreatitis, Thrombocytopenia, Cholangitis, Liv... |
ORPHA:480520 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Autoimmune antibody positivity, Foam cells |
ORPHA:747 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Sepsis, Decreased circulating antibody level, Anemia, Recurrent infections, Recurrent skin infect... |
ORPHA:79396 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Atherosclerosis, Otitis media, Chronic active hepatitis, Tubuloin... |
OMIM:203800 |
| Currarino Syndrome |
|
Perianal abscess, Sepsis, Vascular dilatation, Recurrent urinary tract infections |
OMIM:176450 |
| Pemphigus Vulgaris |
|
Autoimmunity, Anti-desmoglein-1 antibody positivity, Anti-desmoglein-3 antibody positivity, Recur... |
ORPHA:704 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Antineutrophil antibody positivity, Hepatitis, Anti-glutamic acid decarboxylase antibody positivi... |
ORPHA:228426 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Cherry red spot of the macula, Hepatosplenomegaly, ... |
ORPHA:333 |
| Menkes Disease |
|
Sepsis, Osteomyelitis, Arterial stenosis, Venous insufficiency, Vascular dilatation, Intracranial... |
ORPHA:565 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
| Neuroleptic Malignant Syndrome |
|
Sepsis, Aspiration pneumonia, Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529799 |
| Alkaptonuria |
|
Atherosclerosis, Methemoglobinemia, Prostatitis, Aortic aneurysm, Osteoarthritis, Arthritis, Coro... |
ORPHA:56 |
| Tangier Disease |
|
Coronary artery stenosis, Hepatosplenomegaly, Carotid artery stenosis, Thrombocytopenia, Anemia, ... |
ORPHA:31150 |
| Hyperlipoproteinemia, Type I |
|
Precocious atherosclerosis, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
| Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Atherosclerosis |
OMIM:614008 |
| Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hypersplenism, Coronary artery atherosclerosis, Stroke, Precocious atheroscle... |
ORPHA:275761 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis |
OMIM:618398 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-like episode, Right aortic... |
OMIM:300845 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis |
OMIM:619362 |
| Plague |
|
Inflammation of the large intestine, Sepsis, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash,... |
ORPHA:707 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Sepsis, Polysplenia, Splenomegaly, Anemia |
OMIM:619418 |
| 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, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Sepsis, Recurrent urinary tract infections, Pyoderma, Gastrointestinal inflammation, A... |
ORPHA:79404 |
| Cockayne Syndrome |
|
Vascular calcification, Retinal arteriolar constriction, Atherosclerosis, Malar rash, Splenomegal... |
ORPHA:191 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Sepsis, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivit... |
ORPHA:95455 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Sepsis, Chapped lip, Recurrent skin infections, Cheilitis |
ORPHA:158668 |
| Liver Disease, Severe Congenital |
|
Pneumonia, Sepsis, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis me... |
OMIM:619991 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Skin rash |
ORPHA:220295 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Coronary artery stenosis, Splenomegaly, Renal artery athero... |
ORPHA:565612 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis |
ORPHA:2241 |
| Werner Syndrome |
|
Elevated hemoglobin A1c, Premature arteriosclerosis |
OMIM:277700 |
| Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anisopoikilocytosis |
OMIM:607330 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sepsis, Coarctation of aorta, Recurrent lower respiratory tract infections, Recurrent infections,... |
ORPHA:363611 |
| 3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Coronary artery atherosclerosis |
ORPHA:435638 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Neonatal sepsis |
ORPHA:90790 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the pulmonary artery, Coronar... |
ORPHA:363618 |
| Hyperlipoproteinemia, Type Id |
|
Premature coronary artery atherosclerosis, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Co... |
OMIM:615947 |
| Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:909 |
| Estrogen Resistance Syndrome |
|
Acne, Coronary artery atherosclerosis |
ORPHA:785 |
| Hutchinson-Gilford Progeria Syndrome |
|
Carotid artery occlusion, Atherosclerosis, Transient ischemic attack, Stroke, Osteoarthritis, Int... |
ORPHA:740 |
| Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Foam cells, Bone-marrow foam cells |
ORPHA:646 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia, Coronary artery atherosclerosis |
ORPHA:439232 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cherry red spot of the macula, Systemic lupus erythematosus, Hypersplenism, Interstitial pneumoni... |
ORPHA:77293 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Sepsis, Vascular tortuosity, Acute myelomonocytic leukemia |
ORPHA:99646 |
| Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Abnormality of the pulmonary artery, Coronary artery ather... |
ORPHA:79474 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating antibody level, Tra... |
ORPHA:3132 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural... |
ORPHA:90324 |
| Pmm2-Cdg |
|
Aspiration pneumonia, Impaired neutrophil chemotaxis, Intracranial hemorrhage, Pericarditis |
ORPHA:79318 |
| Alzheimer Disease, Familial, 1 |
|
|
OMIM:104300 |
