Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunodeficiency 62 |
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Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 105 |
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Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... |
OMIM:619924 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618987 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Lymphoma, Hodgkin, Classic |
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Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Immunodeficiency 50 |
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Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Distal Duplication 14Q |
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Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Agammaglobulinemia 3, Autosomal Recessive |
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Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
Immunodeficiency 109 With Lymphoproliferation |
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Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Aortic Aneurysm, Familial Thoracic 4 |
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Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... |
OMIM:132900 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Familial Aortic Dissection |
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Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... |
ORPHA:229 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Immunodeficiency, Common Variable, 13 |
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Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Transcobalamin Deficiency |
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Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Immunodeficiency 102 |
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Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
Aorto-Ventricular Tunnel |
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Aortic root aneurysm, Abnormal coronary artery morphology, Congestive heart failure, Abnormal aor... |
ORPHA:3400 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Fibromuscular Dysplasia, Arterial |
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Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... |
OMIM:135580 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
Autoinflammation With Infantile Enterocolitis |
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Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm... |
OMIM:616050 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
Immunodeficiency 15B |
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Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Lymphoproliferative Syndrome 3 |
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Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
Immunodeficiency 48 |
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Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Immunodeficiency 20 |
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Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 67 |
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Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Immunodeficiency 43 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired... |
OMIM:619313 |
Immunodeficiency 54 |
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Adrenocorticotropic hormone excess, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Congenital Heart Defects, Multiple Types, 4 |
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Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... |
OMIM:615779 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 85 And Autoimmunity |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Aortic Aneurysm, Familial Thoracic 7 |
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Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
Pgm3-Cdg |
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Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... |
ORPHA:860 |
Immunodeficiency, Common Variable, 6 |
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Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Coarctation of aorta, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... |
ORPHA:277 |
Coarctation Of Aorta |
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Coarctation of aorta |
OMIM:120000 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, Decreased proportion o... |
OMIM:243700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618986 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Aortic Aneurysm, Familial Thoracic 6 |
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Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
Hypoplastic Left Heart Syndrome 1 |
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Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level |
ORPHA:100024 |
Familial Isolated Dilated Cardiomyopathy |
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Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Familial Cerebral Saccular Aneurysm |
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Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... |
ORPHA:3092 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresia, Abnormal descending a... |
ORPHA:99050 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus |
ORPHA:228190 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Atrial flutter, Tetralogy of Fallot, Transient ischemic attack, Palpitatio... |
ORPHA:1330 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Thrombocytopenia, Anemia |
ORPHA:101028 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellu... |
ORPHA:91387 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Aortic tortuosity, Thoracic aortic aneurysm, Ascending aortic dissection |
OMIM:616166 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Arteria lusoria, Decreased proportion of CD4-positive helper T... |
ORPHA:221139 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... |
OMIM:618780 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Coarctation of aorta, Leukopenia, Splenomegaly |
OMIM:620210 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169154 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:102700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
Tricuspid Atresia |
|
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... |
ORPHA:1209 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... |
OMIM:613854 |
Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Co... |
OMIM:614823 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... |
ORPHA:1166 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus |
ORPHA:1455 |
Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... |
ORPHA:449400 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:608184 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Coarctation of aorta, Pulmonary arterial hypertension, Neutropenia, Thrombocytopenia, Patent duct... |
OMIM:614857 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta, Anterior hypopituitarism, Perisylvian polymicrogyria |
ORPHA:280195 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Abnormality of the diaphrag... |
ORPHA:1686 |
Activated Pi3K-Delta Syndrome |
|
Decreased circulating antibody level, Increased circulating IgM level, Splenomegaly, B lymphocyto... |
ORPHA:397596 |
Scimitar Syndrome |
|
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Abnormal hemidiaphragm morphology, Cong... |
ORPHA:185 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta, Hypertension |
OMIM:616069 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... |
OMIM:601495 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
Conotruncal Heart Malformations |
|
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... |
OMIM:217095 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Distal lower limb muscle weakness, Descending aortic dissection, Small thenar eminence, Ascending... |
OMIM:620080 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:615502 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries |
ORPHA:261243 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta, Facial palsy |
OMIM:107550 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
Aorta Coarctation |
|
Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten... |
ORPHA:1457 |
Holt-Oram Syndrome |
|
Atrioventricular block, Paroxysmal atrial fibrillation, Abnormal aortic morphology, First degree ... |
ORPHA:392 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:2001 |
Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Abnormal ascendin... |
ORPHA:2299 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal aortic morphology |
ORPHA:3405 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Left axis deviation, Truncus arteriosus, Tra... |
OMIM:620294 |
Transaldolase Deficiency |
|
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Telangiectasia, Coarctation of aorta, Thrombocyto... |
OMIM:606003 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgit... |
OMIM:613426 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... |
OMIM:614700 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Pulmonary arteriovenous malform... |
OMIM:175050 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... |
ORPHA:980 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Portal hyperten... |
ORPHA:79124 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Periventricular heterotopia, Agenesis of corpus callosum, Coarctation of... |
OMIM:618929 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Ascending aortic dissection |
OMIM:618496 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis |
ORPHA:2248 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Coarctation of a... |
ORPHA:3426 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Coarctation of aorta, Patent ductus art... |
ORPHA:1120 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly, Righ... |
OMIM:608978 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges... |
ORPHA:363705 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... |
OMIM:619381 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis |
ORPHA:284169 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... |
OMIM:610338 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphrag... |
ORPHA:251071 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Polysplenia, Tetralo... |
OMIM:208530 |
Phace Association |
|
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... |
OMIM:606519 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplasia/Hyp... |
ORPHA:1926 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... |
OMIM:617168 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... |
OMIM:300755 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Mitral stenosis, Agenesis of corpus callos... |
OMIM:617260 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Single coronary artery origin, Tachycardia, Patent ductus ar... |
ORPHA:3384 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch |
OMIM:140850 |
Immunodeficiency 9 |
|
Lymphopenia, Hypoplasia of the thymus, Myopathy, Abnormal natural killer cell count |
OMIM:612782 |
Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Multilobulated spleen, Tetralogy of Fallot, Congen... |
OMIM:601186 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries |
ORPHA:293181 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, B lymphocytopenia, Pachygyria, T lymphocytopenia, Simpli... |
OMIM:615966 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... |
ORPHA:391665 |
Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Aortic regurgitation, Thoracic aorta calcification, Aortic arch aneurysm, ... |
ORPHA:402075 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
Meacham Syndrome |
|
Aortic valve stenosis, Tetralogy of Fallot, Abnormality of the spleen, Conotruncal defect, Congen... |
ORPHA:3097 |
Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Aplastic anemia, Patent ductus arteriosus, Thrombocytopenia |
OMIM:300514 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... |
ORPHA:3342 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Aortic root aneurysm, Generalized arterial tortuosit... |
OMIM:208050 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... |
OMIM:619702 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Persistent left superior vena cava, Coarctation of aorta, Polymicrogyria |
OMIM:618494 |
Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... |
ORPHA:397 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Agenesis of... |
ORPHA:96147 |
Pagod Syndrome |
|
Pulmonary artery hypoplasia, Abnormality of the spleen, Abnormal aortic morphology, Abnormality o... |
ORPHA:991 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Aortic dissection, Abnormal venous morphology, Congestive heart failure, Dec... |
ORPHA:1900 |
Loeys-Dietz Syndrome 6 |
|
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... |
OMIM:619656 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:614300 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Camptodactyly of finger |
ORPHA:2876 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Conot... |
ORPHA:2306 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus |
OMIM:617159 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Polymicrogyria, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic s... |
OMIM:618343 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis, Coarctation of aorta, Left ve... |
OMIM:616564 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Dextrotransposition of the g... |
OMIM:270100 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... |
OMIM:620005 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Interrupted aortic arch, Pulmonary artery dilatation, Right-to-left shunt, Tetralogy of Fallot, D... |
OMIM:265380 |
15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Total anomalous pulmonary venous return |
ORPHA:261183 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... |
ORPHA:90068 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:293978 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Agenesis of corpus ca... |
ORPHA:2396 |
Galloway-Mowat Syndrome 3 |
|
Coarctation of aorta, Camptodactyly, Pachygyria, Hypertension, Lissencephaly, Simplified gyral pa... |
OMIM:617729 |
Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... |
OMIM:614816 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... |
OMIM:617205 |
You-Hoover-Fong Syndrome |
|
Double aortic arch, Coarctation of aorta, Vascular ring |
OMIM:616954 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Polymicrogyria, Camptodactyly of finger, Elbow flexion contracture,... |
ORPHA:1692 |
Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Edema, Tricuspid regurgitation, Muscular ventricular septal defect, ... |
OMIM:212093 |
Toriello-Carey Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Agenesis of corpus callosum, Coarctation of aorta, Partial a... |
ORPHA:3338 |
Fryns Syndrome |
|
Abnormal aortic arch morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal a... |
ORPHA:2059 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Coarctation of aorta, Atrioventricular block, Hypertension, Double outlet right ventricle |
ORPHA:371428 |
Loeys-Dietz Syndrome |
|
Arterial dissection, Aortic dissection, Arterial tortuosity, Camptodactyly of finger, Aortic aneu... |
ORPHA:60030 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Coarctation of aorta, Pulmo... |
OMIM:614921 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery |
OMIM:600460 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... |
OMIM:620066 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Abnormal aortic morphology |
ORPHA:1001 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... |
OMIM:617506 |
Kleefstra Syndrome |
|
Tetralogy of Fallot, Agenesis of corpus callosum, Pulmonary artery stenosis, Arrhythmia, Coarctat... |
ORPHA:261494 |
Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Pineal cyst, Patent... |
OMIM:600268 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Coarctation of... |
ORPHA:2008 |
Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral stenosis, Pulmonary artery stenosis, Coarctat... |
OMIM:605275 |
Alport Syndrome |
|
Aortic aneurysm, Renal glomerular foam cells, Hypertension, Abnormal aortic morphology |
ORPHA:63 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Coarctation of aorta, Pulmonary arterial hypertension, Progressive flexion... |
ORPHA:93932 |
Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia, Dextrotranspo... |
OMIM:306955 |
Loeys-Dietz Syndrome 2 |
|
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Joint contracture of the hand, Aor... |
OMIM:610168 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... |
ORPHA:17 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of ... |
ORPHA:284984 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Coarctation of aorta |
OMIM:600987 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Abnormality of the thenar... |
ORPHA:124 |
Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
Holoprosencephaly |
|
Tetralogy of Fallot, Panhypopituitarism, Abnormality of the spleen, Abnormal aortic morphology, C... |
ORPHA:2162 |
Orofaciodigital Syndrome Vi |
|
Polymicrogyria, Periventricular nodular heterotopia, Agenesis of corpus callosum, Coarctation of ... |
OMIM:277170 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Coarctation of aorta, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Muscular dystrophy, Rhabdomyosarcoma, Abnormal aortic morphology, Coarctati... |
ORPHA:1052 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Skeletal muscle atrophy, Tricuspid regurgitation, Type 1 muscle fiber predominanc... |
OMIM:614557 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Coarctation of aorta, Facial palsy |
ORPHA:2780 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia |
OMIM:307200 |
Lowry-Maclean Syndrome |
|
Coarctation of aorta, Congenital diaphragmatic hernia |
ORPHA:2409 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Congestive heart failure, Elevate... |
OMIM:105650 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmo... |
OMIM:620025 |
Pseudotrisomy 13 Syndrome |
|
Coarctation of aorta, Agenesis of corpus callosum, Polymicrogyria |
OMIM:264480 |
Fanconi Anemia |
|
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Leukopenia, Abnorma... |
ORPHA:84 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Camptodactyly, Coarctation of aorta, Aortic root aneurysm, Congenital diaphragmatic hernia |
OMIM:617602 |
Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormality of the s... |
ORPHA:648 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Polymicrogyria, Congenital diaphragmatic hernia, Coarctation of aorta, Pulmonary arterial hyperte... |
OMIM:618454 |
Loeys-Dietz Syndrome 3 |
|
Aortic regurgitation, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatat... |
OMIM:613795 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Hepatosplenomegaly, Abnormal aortic morpho... |
ORPHA:217085 |
Marfan Syndrome |
|
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary art... |
ORPHA:558 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Hepatosplenomegaly, Abnormal aortic morpho... |
ORPHA:217093 |
Phace Syndrome |
|
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Agenesis of corpu... |
ORPHA:42775 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita... |
ORPHA:99125 |
Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Persistent le... |
ORPHA:2745 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Distal arthrogryposis, Facial hypotonia, Lateral ventricle di... |
OMIM:617557 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coarctation of aorta |
OMIM:163200 |
Kabuki Syndrome 2 |
|
Coarctation of aorta, Pulmonic stenosis |
OMIM:300867 |
Mucopolysaccharidosis Type 2 |
|
Contractures of the large joints, Cardiomyopathy, Abnormal aortic morphology, Splenomegaly, Flexi... |
ORPHA:580 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:1708 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Shoulder flexion contracture, Lateral ventricle dilatation, Pachygyri... |
OMIM:210710 |
Chédiak-Higashi Syndrome |
|
Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m... |
ORPHA:167 |
Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... |
OMIM:300989 |
Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Hepatosplenomegaly, Leukocytosis, Coarctation of aorta, Eosinophilia, Thromb... |
OMIM:274000 |
Distal Deletion 15Q |
|
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... |
ORPHA:1596 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... |
OMIM:251260 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Hypersplenism, Portal hypertension, Splenomegaly, Pulmonary artery stenosis, ... |
OMIM:301068 |
Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Congenital diaphragmatic hernia, Agenesis of corpus callosum |
ORPHA:268249 |
Igg4-Related Kidney Disease |
|
Arteritis, Abnormal aortic morphology, Eosinophilia, Abnormality of the anterior pituitary, Peric... |
ORPHA:449395 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Coarctation of aorta, Unilateral facial palsy, Torticollis, Partial agenesis of the corpus callos... |
OMIM:619480 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Bone marrow hypocellularity, Agenesis of corpus callosum, Coarctation of a... |
ORPHA:2308 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Tetralogy of Fallot, Agenesis of corpus callosum, Truncus arteriosus, Coarc... |
ORPHA:508498 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Pulmonary artery atresia, Coarctation of aorta, Double outlet right ventri... |
OMIM:618164 |
Marfan Syndrome |
|
Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Conge... |
OMIM:154700 |
Maternal Phenylketonuria |
|
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle |
ORPHA:2209 |
Viss Syndrome |
|
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Dila... |
OMIM:619472 |
Myhre Syndrome |
|
Aortic valve stenosis, Skeletal muscle hypertrophy, Coarctation of aorta, Camptodactyly, Hyperten... |
OMIM:139210 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Tetralogy of Fallot, Coarctation of aorta, Agenesis of corpus callosum |
OMIM:618748 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia |
ORPHA:83617 |
Generalized Arterial Calcification Of Infancy |
|
Aortic dissection, Medial calcification of large arteries, Arterial calcification, Transient isch... |
ORPHA:51608 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Camptodactyly of finger, Splenomegaly, Agenesis of corpus callosum, Coarctation... |
OMIM:249000 |
Smith-Lemli-Opitz Syndrome |
|
Hypertrophic cardiomyopathy, Periventricular heterotopia, Splenomegaly, Coarctation of aorta, Col... |
OMIM:270400 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Coarctation of aorta, Patent ductus arteriosus |
OMIM:617088 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation ... |
ORPHA:90348 |
Autosomal Recessive Robinow Syndrome |
|
Tetralogy of Fallot, Abnormal aortic morphology, Camptodactyly of finger |
ORPHA:1507 |
Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary hemorrhage, Mitral regurgitation, Joint contracture of the 5th finger, Coarctation of a... |
ORPHA:363611 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... |
ORPHA:391487 |
Kaufman Oculocerebrofacial Syndrome |
|
Coarctation of aorta |
OMIM:244450 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Aortic isthmus hypoplasia, Agenesis of corpus callosum, Persistent left superio... |
OMIM:180849 |
17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Abnormal intern... |
ORPHA:97685 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Coarctation of aorta, Amegakaryocy... |
OMIM:163950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral regurgitation, Coarctation of a... |
OMIM:220111 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Coarctation of aorta, Muscle hypertrophy of the lower extremities, Increased circulating gonadotr... |
ORPHA:1772 |
8Q24.3 Microdeletion Syndrome |
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Ectopic posterior pituitary, Gastrointestinal hemorrhage, Truncus arteriosus, Coarctation of aort... |
ORPHA:508488 |
Femoral-Facial Syndrome |
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Camptodactyly of finger, Agenesis of corpus callosum, Truncus arteriosus, Coarctation of aorta, P... |
OMIM:134780 |
Osteogenesis Imperfecta |
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Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Aortic aneury... |
ORPHA:666 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Truncus arteriosus, Coarctation of aorta, Transposition of the great arteri... |
OMIM:612474 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Coarctation of aorta, Paten... |
ORPHA:353281 |
Vascular Ehlers-Danlos Syndrome |
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Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... |
ORPHA:286 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... |
ORPHA:99413 |
Turner Syndrome |
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Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... |
ORPHA:881 |
Mosaic Monosomy X |
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Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... |
ORPHA:99228 |
Monosomy X |
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Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... |
ORPHA:99226 |
Blomstrand Lethal Chondrodysplasia |
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Coarctation of aorta |
ORPHA:50945 |
Alagille Syndrome 1 |
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Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Stroke, Coarcta... |
OMIM:118450 |
Esophageal Atresia |
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Tetralogy of Fallot, Coarctation of aorta |
ORPHA:1199 |
Pallister-Hall Syndrome |
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Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Gonadotropin deficiency... |
ORPHA:672 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Aortic valve stenosis, Vascular ring, Abnormal lateral ventricle morphology, Cardiac conduction a... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Aortic valve stenosis, Vascular ring, Abnormal lateral ventricle morphology, Cardiac conduction a... |
ORPHA:353277 |
Mullegama-Klein-Martinez Syndrome |
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Coarctation of aorta, Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
Kabuki Syndrome |
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Coarctation of aorta, Congenital diaphragmatic hernia |
ORPHA:2322 |
Catel-Manzke Syndrome |
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Camptodactyly, Overriding aorta, Coarctation of aorta |
OMIM:616145 |
Nicolaides-Baraitser Syndrome |
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Coarctation of aorta |
OMIM:601358 |
Robinow Syndrome |
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Coarctation of aorta, Pulmonic stenosis |
ORPHA:97360 |
Kabuki Syndrome 1 |
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Coarctation of aorta, Autoimmune thrombocytopenia, Hemolytic anemia, Lateral ventricle dilatation |
OMIM:147920 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Aortic valve stenosis, Lateral ventricle dilatation, Hyphema, Polymicrogyria, Tetralogy of Fallot... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Aortic valve stenosis, Lateral ventricle dilatation, Polymicrogyria, Tetralogy of Fallot, Periven... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Aortic valve stenosis, Polymicrogyria, Tetralogy of Fallot, Periventricular heterotopia, Agenesis... |
ORPHA:2152 |
Floating-Harbor Syndrome |
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Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta |
ORPHA:2044 |
Floating-Harbor Syndrome |
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Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Craniofacial Microsomia 1 |
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Hypoplasia of facial musculature, Tetralogy of Fallot, Right aortic arch, Agenesis of corpus call... |
OMIM:164210 |
Pallister-Killian Syndrome |
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Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Hypertrophic cardiomyopathy, Congenital ... |
OMIM:601803 |