| 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 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
| Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Antineutrophil antibody p... |
ORPHA:464370 |
| Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... |
OMIM:301082 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, Decreased circulatin... |
OMIM:616740 |
| Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
| Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis |
OMIM:618847 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte morphology, Arthritis, Abnormalit... |
ORPHA:229717 |
| Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... |
ORPHA:231154 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Systemic lupus erythematosus, Eczema, Monocytosis, Leukopenia, Bone marrow hypocellularity, Refra... |
OMIM:616871 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
| Hypercholesterolemia, Familial, 4 |
|
Atherosclerosis |
OMIM:603813 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... |
OMIM:618986 |
| Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
| Reticular Dysgenesis |
|
Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophils, Decreased circul... |
ORPHA:33355 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Foam cells, Decreased proportion of CD4+CD25+ regulatory T cells, Monoc... |
OMIM:619802 |
| Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... |
OMIM:616100 |
| Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, Seve... |
OMIM:615122 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... |
OMIM:132900 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... |
ORPHA:276 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
| Felty Syndrome |
|
Sinusitis, Splenomegaly, Anemia, Sepsis, Recurrent urinary tract infections, Chronic otitis media... |
ORPHA:47612 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| Bullous Impetigo |
|
Recurrent bacterial skin infections, Sepsis, Pustule, Septic arthritis |
ORPHA:36237 |
| Extracranial Carotid Artery Aneurysm |
|
Stroke, Opportunistic infection, Severe infection, Subarachnoid hemorrhage, Vasculitis, Extrapulm... |
ORPHA:494424 |
| Hyperlipoproteinemia, Type Iv |
|
Precocious atherosclerosis |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Precocious atherosclerosis |
OMIM:145750 |
| Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Sepsis, Rheumatoid f... |
ORPHA:443811 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:612260 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam... |
OMIM:607616 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hem... |
ORPHA:444463 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Foam cells, Splenomegaly |
OMIM:269600 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... |
ORPHA:33110 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Type IV atherosclerotic lesion |
OMIM:144300 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Atherosclerosis |
ORPHA:2724 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia |
OMIM:300299 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,... |
OMIM:609529 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Sepsis, Chronic otitis media, Arthritis, Hepatitis, Meningit... |
ORPHA:47 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Antinuclear antibody positivity, Chronic decreased circulating to... |
OMIM:613495 |
| Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent skin infections, Otitis media, Re... |
ORPHA:2686 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Sepsis, Recurrent bacterial infections, Thrombocytopenia, Recurrent pneum... |
OMIM:617475 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| C1Q Deficiency |
|
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity, Recurrent i... |
OMIM:613652 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomegaly, Membranoproliferativ... |
OMIM:619644 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... |
OMIM:616941 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphad... |
OMIM:618935 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Hepatospleno... |
OMIM:612840 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis, Recurrent infections, Recurrent skin infections |
OMIM:610680 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis, Recurrent bronchitis, Autoimmunity |
OMIM:216950 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Foam cells |
OMIM:245900 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Anti-thyroid peroxidase antibody positivity... |
ORPHA:37042 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,... |
OMIM:137100 |
| Omenn Syndrome |
|
Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morphology, Autoimmunity, P... |
ORPHA:39041 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... |
ORPHA:277 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233710 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec... |
OMIM:612541 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Autoimmunity, ... |
ORPHA:169079 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Scedosporiosis |
|
Unusual skin infection, Opportunistic fungal infection, Sinusitis, Osteomyelitis, Unusual CNS inf... |
ORPHA:449280 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233690 |
| Immunodeficiency 7 |
|
Autoimmunity, Recurrent infections, Hypereosinophilia |
OMIM:615387 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Sepsis, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
| Wiskott-Aldrich Syndrome |
|
Eczema, Sepsis, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed hyperse... |
OMIM:301000 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:615559 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnormally low T ce... |
OMIM:602450 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Pancreatitis, Lymphopenia, Stroke, Arteriosclerosis of small cerebral ... |
ORPHA:1830 |
| Chronic Granulomatous Disease |
|
Sinusitis, Splenomegaly, Otitis media, Eczema, Sepsis, Liver abscess, Abnormality of neutrophils,... |
ORPHA:379 |
| Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... |
ORPHA:51636 |
| Apolipoprotein A-I Deficiency |
|
Premature coronary artery atherosclerosis, Atherosclerosis |
ORPHA:425 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy |
OMIM:252350 |
| Congenital Enterovirus Infection |
|
Skin rash, Leukocytosis, Leukopenia, Sepsis, Myocarditis, Abnormal macrophage morphology, Hepatit... |
ORPHA:292 |
| Melioidosis |
|
Splenic abscess, Unusual skin infection, Prostatitis, Osteoarthritis, Sepsis, Brain abscess, Abno... |
ORPHA:31202 |
| Bacterial Toxic-Shock Syndrome |
|
Sepsis, Abscess, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, Increased circ... |
ORPHA:36234 |
| Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Sepsis, Recurrent upper res... |
OMIM:233600 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Sepsis, Autoimmune thrombocytopenia, Recurrent upper respiratory tract ... |
ORPHA:293978 |
| Fish-Eye Disease |
|
Atherosclerosis |
ORPHA:79292 |
| Panbronchiolitis, Diffuse |
|
Foam cells |
OMIM:604809 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Gm1-Gangliosidosis, Type Iii |
|
Foam cells |
OMIM:230650 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Pyomyositis |
|
Leukocytosis, Sepsis, Myositis, Recurrent infections, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Atherosclerosis |
OMIM:610842 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
| Lcat Deficiency |
|
Premature coronary artery atherosclerosis, Atherosclerosis |
ORPHA:650 |
| Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... |
ORPHA:2968 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Sepsis, Recurrent infections |
ORPHA:204 |
| Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Thrombocytopenia, Skin rash, Sepsis |
ORPHA:49566 |
| Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Smooth muscle antibody positivity,... |
OMIM:610163 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromboc... |
OMIM:619375 |
| Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Eczema, Sepsis, Blepharitis, Conjunctivitis, Inflammation of the large i... |
ORPHA:906 |
| Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... |
OMIM:618534 |
| Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis,... |
OMIM:306400 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infections, Increased c... |
OMIM:618495 |
| Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Anemia, Maculopapular exanthema, Lymphadenitis,... |
ORPHA:31205 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Leukocytosis, Severe infection, Leukopenia, Sepsis, Acute infectious pneumonia, Pne... |
ORPHA:36238 |
| Heme Oxygenase 1 Deficiency |
|
Coombs-positive hemolytic anemia, Nephritis, Sepsis, Hemolytic anemia, Thrombocytosis, Asplenia |
OMIM:614034 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Cherry red spot of the macula, Splenomegaly, Foam cells with lamellar inc... |
OMIM:257200 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:601859 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Coronary artery atherosclerosis, Accelerated atherosclerosis |
OMIM:618620 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Abnormal common carotid artery morphology, Thoracic aortic ... |
ORPHA:449400 |
| Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Pancreatitis, Pneumonia, Sepsis |
ORPHA:70578 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... |
ORPHA:331206 |
| Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... |
OMIM:616005 |
| Tangier Disease |
|
Coronary artery atherosclerosis, Atherosclerosis |
OMIM:205400 |
| Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Myocarditis, Hepatitis, Recurrent ... |
ORPHA:549 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Nephritis, Splenomegaly, Leukopenia, Sepsis, Patent ductus... |
OMIM:617303 |
| Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis |
OMIM:616833 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature coronary artery atherosclerosis, Precocious atherosclerosis |
OMIM:176670 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
| Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Sepsis, A... |
ORPHA:319218 |
| Immunodeficiency 31C |
|
Lymphopenia, Eczema, Chronic mucocutaneous candidiasis, Autoimmunity, Autoimmune hemolytic anemia... |
OMIM:614162 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin |
ORPHA:542592 |
| Listeriosis |
|
Unusual CNS infection, Stroke, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Septic arth... |
ORPHA:533 |
| Mirage Syndrome |
|
Lymphopenia, Aspiration pneumonia, Leukopenia, Intracranial hemorrhage, Sepsis, Recurrent urinary... |
OMIM:617053 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Cerebral artery atherosclerosis, Renal artery stenosis |
OMIM:209010 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Foam cells, Autoimmune antibody positivity |
ORPHA:264675 |
| Cholesteryl Ester Storage Disease |
|
Arteriosclerosis |
ORPHA:75234 |
| Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
| Alg1-Cdg |
|
Sepsis, Recurrent infections |
ORPHA:79327 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis |
ORPHA:140905 |
| Avian Influenza |
|
Lymphopenia, Leukopenia, Sepsis, Myelitis, Hepatitis, Meningitis, Infectious encephalitis, Pneumo... |
ORPHA:454836 |
| Calciphylaxis |
|
Sepsis, Arterial calcification |
ORPHA:280062 |
| Shwachman-Diamond Syndrome |
|
Eczema, Sepsis, Aplastic anemia, Macrocytic anemia, Pneumonia, Pancytopenia, Bone marrow hypocell... |
ORPHA:811 |
| Lamellar Ichthyosis |
|
Erythroderma, Sepsis, Chronic otitis media, Recurrent respiratory infections |
ORPHA:313 |
| Radiation Proctitis |
|
Sepsis, Abnormal gastrointestinal vascular morphology, Rectal abscess, Abnormal vascular morpholo... |
ORPHA:70475 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis |
OMIM:619059 |
| Dysbetalipoproteinemia |
|
Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic l... |
ORPHA:412 |
| Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Periodontitis, Hemophagocytosis, Splenomegaly, Abnormal dens... |
OMIM:214500 |
| Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Lymphopenia, Stroke, Thrombocytopenia, Pancytopenia, Decreased circula... |
OMIM:242900 |
| Secondary Short Bowel Syndrome |
|
Atherosclerosis, Sepsis, Enterocolitis |
ORPHA:95427 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Coronary artery atherosclerosis, Aortic atherosclerotic lesion, Accelerated atherosclerosis |
ORPHA:209902 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Autoimmunity, Recurrent respiratory infectio... |
OMIM:615758 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Precocious atherosclerosis |
ORPHA:230839 |
| Flynn-Aird Syndrome |
|
Atherosclerosis |
ORPHA:2047 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Pancreatitis, Splenomegaly, Atherosclerosis, Coronary artery atheroscle... |
ORPHA:79083 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Coronary artery atherosclerosis, Pancreatitis, Atherosclerosis, Splenomegaly |
ORPHA:2348 |
| Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... |
ORPHA:98848 |
| Galactosemia |
|
Sepsis, Abnormal erythrocyte enzyme level |
ORPHA:352 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Stroke-like episode, Arteriosclerosis |
ORPHA:199354 |
| Acatalasemia |
|
Microcytic anemia, Severe periodontitis, Arteriosclerosis |
ORPHA:926 |
| Meningococcal Meningitis |
|
Sepsis, Stroke, Infectious encephalitis, Skin rash |
ORPHA:33475 |
| Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... |
ORPHA:263501 |
| Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
| Classic Galactosemia |
|
Sepsis, Abnormal erythrocyte enzyme level |
ORPHA:79239 |
| X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, Myocarditis, B lymphocytopenia, Increased proportion of CD25+ ... |
ORPHA:2442 |
| Hirschsprung Disease |
|
Sepsis |
ORPHA:388 |
| Acute Lung Injury |
|
Acute pancreatitis, Sepsis, Pneumonia |
ORPHA:178320 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytosis, Splenom... |
OMIM:301078 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Splenomegaly, Recurrent... |
ORPHA:167 |
| Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Pneumonia, Rhinitis, Prostatitis, Os... |
ORPHA:2552 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... |
OMIM:603909 |
| Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
| Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... |
OMIM:152700 |
| Shigellosis |
|
Splenic abscess, Acute colitis, Leukocytosis, Peritonitis, Abscess, Sepsis, Myocarditis, Arthriti... |
ORPHA:810 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Infant Acute Respiratory Distress Syndrome |
|
Sepsis, Pneumonia |
ORPHA:70587 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... |
ORPHA:411593 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Splenomegaly, CNS foam cells, Foam cells, Bone-marrow foam cells |
OMIM:257220 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Coronary artery atherosclerosis |
ORPHA:79084 |
| Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
| Cryptococcosis |
|
Osteomyelitis, Systemic lupus erythematosus, Prostatitis, Peritonitis, Sepsis, Lymphoid leukemia,... |
ORPHA:1546 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent fungal infections, Anticardiolipin IgG antibody positivity, Lymphopenia, Perinuclear an... |
OMIM:619573 |
| Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Peripheral arterial stenosis, Premature coronary artery atheroscleros... |
ORPHA:391665 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of medium-sized arteries, Cerebral hemorrhage, Premature occlusive vascular ... |
OMIM:177850 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Stomatiti... |
OMIM:613011 |
| Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Sepsis, Normocytic anemia, Macrocytic anemia, Hepatitis, Autoimmunity, Hashimoto th... |
ORPHA:199299 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impaired neutrophil ... |
OMIM:613470 |
| Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
| Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis |
OMIM:615703 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Sepsis, Normocytic anemia, Pneumonia, Punctate vasculitis skin lesions, Normochromic a... |
ORPHA:247691 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Nephritis, Otitis media, Tubulointerstitial nephritis, Recurrent pneumo... |
OMIM:203800 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia, Neonatal sepsis |
ORPHA:391673 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
| Primary Hyperoxaluria Type 1 |
|
Anemia, Recurrent urinary tract infections, Stroke, Atherosclerosis |
ORPHA:93598 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Atherosclerosis |
ORPHA:1979 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Systemic lupus erythematosus, Lymphopenia, Stroke, Autoimmune thrombocytopenia, Autoimmunity, Rec... |
ORPHA:760 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Splenomegaly, Accelerated atherosclerosis, Atherosclerosis, Coronary artery atheros... |
ORPHA:280365 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Descending thoracic aorta aneury... |
ORPHA:91387 |
| Kid Syndrome |
|
Keratitis, Recurrent candida infections, Recurrent bacterial skin infections, Posterior blepharit... |
ORPHA:477 |
| Nocardiosis |
|
Keratitis, Cutaneous abscess, Thyroiditis, Osteomyelitis, Unusual CNS infection, Severe infection... |
ORPHA:31204 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Sepsis, Patent ductus arteriosus |
OMIM:614886 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Coronary artery atherosclerosis, Prominent superficial veins |
OMIM:608600 |
| Aorta Coarctation |
|
Stroke, Coarctation of the descending aortic arch, Tetralogy of Fallot, Patent ductus arteriosus,... |
ORPHA:1457 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune antibody positivity, Chronic mucocutaneous candidiasis, Autoimmunity, Coronary artery ... |
ORPHA:36913 |
| Arteriosclerosis, Severe Juvenile |
|
Calcification of the aorta, Central retinal vessel vascular tortuosity, Arteriosclerosis |
OMIM:208060 |
| Lassa Fever |
|
Sepsis, Conjunctivitis, Increased circulating IgM level |
ORPHA:99824 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Decreased circulating IgG level, Leukopenia, Hepatosplenomegaly, Sepsi... |
ORPHA:505248 |
| Pseudoxanthoma Elasticum |
|
Skin rash, Acne, Vascular dilatation, Atherosclerosis, Arterial stenosis, Abnormal cerebral vascu... |
ORPHA:758 |
| Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Splenomegaly, CNS foam cells, Foam cells, Bone-marrow foam cells |
OMIM:607625 |
| Sepsis In Premature Infants |
|
Enterocolitis, Leukocytosis, Splenomegaly, Severe infection, Disseminated viral infection, Mening... |
ORPHA:90051 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Coronary artery atherosclerosis, Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Eczema, Interstitial pneumonitis, Autoimmun... |
OMIM:615952 |
| Stevens-Johnson Syndrome |
|
Pancreatitis, Sepsis, Abnormality of neutrophils, Anemia, Thrombocytopenia, Conjunctivitis, Recur... |
ORPHA:36426 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Severe infection, Sepsis |
ORPHA:505395 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Coronary artery atherosclerosis, Reticulocytosis, Arthri... |
OMIM:210250 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic foam cells, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-... |
OMIM:278000 |
| Bullous Pemphigoid |
|
Eczema, Autoimmunity, Recurrent infections, Psoriasiform dermatitis |
ORPHA:703 |
| Werner Syndrome |
|
Pulmonary artery stenosis, Atherosclerosis, Abnormal cerebral vascular morphology |
ORPHA:902 |
| Gamma-Heavy Chain Disease |
|
Skin rash, Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmunity,... |
ORPHA:100026 |
| Pemphigus Vulgaris |
|
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
| Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
| Toxic Epidermal Necrolysis |
|
Pancreatitis, Sepsis, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis, Recurrent respirator... |
ORPHA:537 |
| Gapo Syndrome |
|
Atherosclerosis, Abnormal cerebral vascular morphology |
ORPHA:2067 |
| Pseudoxanthoma Elasticum |
|
Coronary artery atherosclerosis, Stroke, Accelerated atherosclerosis |
OMIM:264800 |
| Caroli Syndrome |
|
Pancreatitis, Leukocytosis, Leukopenia, Sepsis, Cholangitis, Thrombocytopenia, Liver abscess, Hyp... |
ORPHA:480520 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Sepsis, Decreased circulating antibody level, Recurrent infections, An... |
ORPHA:79396 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Menkes Disease |
|
Osteomyelitis, Abnormal carotid artery morphology, Intracranial hemorrhage, Sepsis, Vascular dila... |
ORPHA:565 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Rheumatoid factor positive, Hypersplenism... |
ORPHA:3261 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Coronary artery atherosclerosis, Aortic arch aneurysm, Aortic root aneurysm, Abdominal aortic ane... |
OMIM:617168 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Antineut... |
ORPHA:228426 |
| Farber Disease |
|
Cherry red spot of the macula, Hepatosplenomegaly, Recurrent upper respiratory tract infections, ... |
ORPHA:333 |
| Currarino Syndrome |
|
Sepsis, Recurrent urinary tract infections, Vascular dilatation, Perianal abscess |
OMIM:176450 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Foam cells, Autoimmune antibody positivity |
ORPHA:747 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Primary Lipodystrophy |
|
Pancreatitis, Type IV atherosclerotic lesion, Splenomegaly |
ORPHA:90970 |
| Alkaptonuria |
|
Prostatitis, Osteoarthritis, Arthritis, Atherosclerosis, Coronary artery calcification |
ORPHA:56 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Aspiration pneumonia, Sepsis, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Splenomegaly, Autoimmunity, Pancytopenia, Anemia, Panniculitis |
OMIM:618398 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal sepsis |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal sepsis |
ORPHA:529799 |
| Tangier Disease |
|
Hepatosplenomegaly, Accelerated atherosclerosis, Carotid artery stenosis, Anemia, Thrombocytopeni... |
ORPHA:31150 |
| Macrophage Activation Syndrome |
|
Systemic lupus erythematosus, Neutropenia, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid ar... |
ORPHA:158061 |
| Spondyloenchondrodysplasia |
|
Systemic lupus erythematosus, Skin rash, Juvenile rheumatoid arthritis, Autoimmune thrombocytopen... |
ORPHA:1855 |
| Lysosomal Acid Lipase Deficiency |
|
Stroke, Vacuolated lymphocytes, Precocious atherosclerosis, Hepatosplenomegaly, Coronary artery a... |
ORPHA:275761 |
| Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
| Thymoma |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Aplastic anemia, Myositis, Autoimmunity, Pure... |
ORPHA:99867 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... |
OMIM:243150 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis |
OMIM:619362 |
| Plague |
|
Enterocolitis, Skin rash, Splenomegaly, Lymphadenitis, Sepsis, Endocarditis, Inflammation of the ... |
ORPHA:707 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Splenomegaly, Sepsis, Accessory spleen, Anemia, Polysplenia |
OMIM:619418 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Prominent superficial veins, Atherosclerosis |
OMIM:151660 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
| Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Atherosclerosis |
OMIM:614008 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cutaneous mastocytosis |
ORPHA:280785 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... |
ORPHA:48377 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Recurrent skin infections, Sepsis, Recurrent pneumonia, Chapped lip |
ORPHA:158668 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pyoderma, Sepsis, Recurrent urinary tract infections, Pneumonia, Anemi... |
ORPHA:79404 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Chronic gastritis, Lymphocytosis, Splenomegaly, Peritonitis... |
OMIM:619991 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Keratitis, Inflammatory abnormality of the skin, Skin rash, Anemia, Sepsis, Anterior uveitis, Pne... |
ORPHA:95455 |
| Cockayne Syndrome |
|
Retinal arteriolar constriction, Splenomegaly, Atherosclerosis, Vascular calcification, Malar ras... |
ORPHA:191 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis |
ORPHA:2241 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Arteriosclerosis |
ORPHA:220295 |
| Pemphigus Erythematosus |
|
Systemic lupus erythematosus, Autoimmunity, Malar rash, Antinuclear antibody positivity, Anti-ace... |
ORPHA:79480 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Renal artery atherosclerosis, Inflammatory abnormality of the skin, Pancreatitis, Vacuolated lymp... |
ORPHA:565612 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Antiphospholipid antibody positivity, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune... |
ORPHA:227990 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Pneumonia |
ORPHA:90790 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Antiphospholipid antibody positivity, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune... |
ORPHA:227982 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sepsis, Coarctation of aorta, Recurrent lower respiratory tract infections, Patent ductus arterio... |
ORPHA:363611 |
| 3P25.3 Microdeletion Syndrome |
|
Coronary artery atherosclerosis, Patent ductus arteriosus |
ORPHA:435638 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Intracranial hemorrhage, Abnormality of the pulmonary artery, Aort... |
ORPHA:363618 |
| Gaisböck Syndrome |
|
Peripheral arterial stenosis, Stroke, Increased hematocrit, Elevated plasma cell count, Gout, Inc... |
ORPHA:90041 |
| Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Foam cells with lamellar inclusion bodies, Acanthocytosi... |
OMIM:607330 |
| Werner Syndrome |
|
Elevated hemoglobin A1c, Premature arteriosclerosis |
OMIM:277700 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Premature coronary artery atherosclerosis, Splenomegaly, Recurrent pancrea... |
OMIM:615947 |
| Estrogen Resistance Syndrome |
|
Coronary artery atherosclerosis, Acne |
ORPHA:785 |
| Niemann-Pick Disease Type C |
|
Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Foam cells, Bone-marrow foam cells |
ORPHA:646 |
| Hutchinson-Gilford Progeria Syndrome |
|
Carotid artery occlusion, Stroke, Osteoarthritis, Intracranial hemorrhage, Atherosclerosis, Trans... |
ORPHA:740 |
| Cerebrotendinous Xanthomatosis |
|
Premature coronary artery atherosclerosis, Precocious atherosclerosis |
ORPHA:909 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
| Aapoaiv Amyloidosis |
|
Coronary artery atherosclerosis, Paraproteinemia |
ORPHA:439232 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Vascular tortuosity, Sepsis, Recurrent pneumonia, Acute myelomonocytic leukemia |
ORPHA:99646 |
| Mastocytosis |
|
Chronic leukemia, Acute leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
| Atypical Werner Syndrome |
|
Premature arteriosclerosis, Peripheral arterial stenosis, Prominent superficial veins, Abnormalit... |
ORPHA:79474 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Systemic lupus erythematosus, Cherry red spot of the macula, Splenomegaly, Autoimmune thrombocyto... |
ORPHA:77293 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Eczema, Impaired neu... |
ORPHA:3132 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
| Cockayne Syndrome Type 3 |
|
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Splenomegaly, Aortic root... |
ORPHA:90324 |
| Pmm2-Cdg |
|
Aspiration pneumonia, Pericarditis, Intracranial hemorrhage, Impaired neutrophil chemotaxis |
ORPHA:79318 |
| Myeloperoxidase Deficiency |
|
|
OMIM:254600 |
| Alzheimer Disease, Familial, 1 |
|
|
OMIM:104300 |
