Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Increased circ... |
OMIM:608106 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm |
OMIM:618734 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... |
OMIM:618982 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke |
OMIM:603284 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... |
ORPHA:277 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Cerebral hemorrhage, Stroke, Intracranial hemorrhage |
OMIM:105150 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Hypereosinophilia |
OMIM:212050 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... |
OMIM:308240 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... |
OMIM:618495 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... |
ORPHA:169154 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... |
OMIM:607271 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Increased ... |
OMIM:209950 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level |
ORPHA:37748 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Decreased circulating IgA level, Sclerosing cholangi... |
OMIM:308230 |
Cerebral Cavernous Malformations 3 |
|
Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603285 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level |
OMIM:617744 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency 48 |
|
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Factor Xiii, A Subunit, Deficiency Of |
|
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... |
OMIM:613225 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia |
ORPHA:2688 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding |
OMIM:227500 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... |
ORPHA:100024 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Abeta Amyloidosis, Italian Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:324713 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... |
ORPHA:3002 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Congenital Factor V Deficiency |
|
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... |
ORPHA:326 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, I... |
OMIM:614470 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... |
OMIM:619281 |
Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... |
OMIM:273800 |
Mental Retardation, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... |
ORPHA:83313 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level |
OMIM:618048 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Transient ischemic attack... |
ORPHA:36382 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Increased circulating IgE level, Eosinophilia |
OMIM:147060 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Purpura, Pulmonary embolism |
OMIM:614514 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Abeta Amyloidosis, Iowa Type |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Intraventricular hemorrhage, Abnormal bleedi... |
ORPHA:284388 |
+173470 integrin, beta-3 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... |
OMIM:173470 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreas... |
OMIM:240500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... |
OMIM:102700 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... |
ORPHA:276 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... |
OMIM:605714 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM |
OMIM:242850 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level |
OMIM:178610 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... |
OMIM:300853 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Decreased lymphocyte proli... |
OMIM:606367 |
Factor X Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
OMIM:227600 |
Interstitial Lung Disease 2 |
|
Cirrhosis, Increased circulating antibody level |
OMIM:178500 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... |
ORPHA:79 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... |
ORPHA:331206 |
Hemophilia A |
|
Intracranial hemorrhage, Joint hemorrhage, Bleeding with minor or no trauma, Spontaneous hematoma... |
ORPHA:98878 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... |
ORPHA:853 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... |
OMIM:242860 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Increased circulating antibody level, Thrombocytopenia, Splenomegaly |
OMIM:615846 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Increased circulating IgE level... |
OMIM:304790 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, ... |
OMIM:616100 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Moderate Hemophilia A |
|
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... |
ORPHA:169805 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Increased hepatitis B virus antibody... |
ORPHA:90003 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia, Vein of Galen aneurysmal malformation |
OMIM:618196 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Hepatitis, Decreased lymphocyte... |
ORPHA:169160 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... |
ORPHA:98879 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Familial Cerebral Saccular Aneurysm |
|
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... |
ORPHA:231160 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding |
ORPHA:98880 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613502 |
Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
ORPHA:35909 |
Congenital Factor X Deficiency |
|
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:328 |
Severe Hemophilia A |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... |
ORPHA:169802 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp... |
OMIM:617388 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... |
OMIM:613496 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... |
OMIM:617514 |
Congenital Factor Xiii Deficiency |
|
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... |
ORPHA:331 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... |
OMIM:313900 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Decreased liver function, Decreased proportion of CD4-posit... |
OMIM:301045 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... |
OMIM:615816 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Lassa Fever |
|
Increased circulating IgM level, Jaundice |
ORPHA:99824 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Pelizaeus-Merzbacher Disease |
|
Sudanophilic leukodystrophy, Cerebral dysmyelination, Reduction of oligodendroglia, Abnormal CNS ... |
OMIM:312080 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Fulminant hepatitis, Increased circulating IgG level, Acute hepatitis, ... |
ORPHA:2137 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Increa... |
ORPHA:562639 |
Immunodeficiency 43 |
|
Decreased circulating IgG level |
OMIM:241600 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:612692 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement ... |
ORPHA:91139 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:614878 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Ischemic stroke |
OMIM:182410 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... |
OMIM:613011 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... |
OMIM:618986 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... |
OMIM:615934 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... |
ORPHA:465 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology |
ORPHA:217260 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Stroke, Transient ... |
ORPHA:136 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia |
OMIM:616576 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... |
ORPHA:186 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:602668 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Snakebite Envenomation |
|
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Tachycardia, Cerebral ischemia... |
ORPHA:449285 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Macrove... |
OMIM:617303 |
Acquired Von Willebrand Syndrome |
|
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... |
ORPHA:99147 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... |
ORPHA:31825 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Panhypogammaglobulinemia, Aplasia of the thymus, Lymph node hypoplasia |
OMIM:602450 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increas... |
ORPHA:449432 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension |
ORPHA:84090 |
Multiple Myeloma |
|
Increased circulating IgA level, Lymphadenopathy, Decreased circulating antibody level, Anemia, I... |
ORPHA:29073 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage |
ORPHA:820 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Decreased circulating antibody level, Exocrine pancreatic insuff... |
ORPHA:586 |
Tularemia |
|
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anemia, Increased c... |
ORPHA:3392 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Transient ischemic attack, Stroke, Cerebral vasculitis |
ORPHA:140989 |
Acys Amyloidosis |
|
Cerebral hemorrhage, Stroke |
ORPHA:100008 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
C3 Glomerulopathy |
|
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3 |
ORPHA:329918 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:616005 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE le... |
ORPHA:330015 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased proportion of CD3-positive T cells, Decreased circulat... |
ORPHA:275 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... |
OMIM:610655 |
Rift Valley Fever |
|
Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Elevated hep... |
ORPHA:319251 |
Polycythemia Vera |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome |
OMIM:263300 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Myocardial infarction |
OMIM:133100 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Stroke, Hypotension |
OMIM:263400 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Ly... |
OMIM:617780 |
Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... |
ORPHA:90362 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Ischemic stroke |
ORPHA:280679 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morp... |
OMIM:300845 |
Hereditary Hemorrhagic Telangiectasia |
|
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... |
ORPHA:774 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Hematochezia |
OMIM:277175 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia, Neu... |
ORPHA:37042 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Internal hemorrhage |
ORPHA:49566 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Neutropenia, Cutaneous anergy, Panhypogammaglobulinemia, Viral h... |
OMIM:209920 |
Dengue Fever |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Hypote... |
ORPHA:99828 |
Familial Hyperaldosteronism Type Ii |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:404 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171420 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Wyburn-Mason Syndrome |
|
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal cerebral vascular morphology, Subarac... |
ORPHA:53719 |
Prolidase Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaun... |
OMIM:170100 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Impaired T cell function |
OMIM:201100 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level, Increased circulating lactate de... |
ORPHA:723 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:403 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
Immunodeficiency 47 |
|
Hepatomegaly, Decreased circulating total IgA, Hepatic fibrosis, Decreased circulating total IgG,... |
OMIM:300972 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis |
ORPHA:343 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:100006 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia |
ORPHA:555905 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lympho... |
OMIM:617591 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... |
OMIM:612301 |
Familial Hyperaldosteronism Type Iii |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Decreased circulating IgG level, Bone marrow hypocellularity, Anemia, Hepatosplenomeg... |
ORPHA:505248 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating... |
ORPHA:79078 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Stroke, Subarachnoid hemorrhag... |
ORPHA:97339 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... |
OMIM:600376 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Increased circulating IgG4 level, Sclerosing cholangitis, Pancreatic fi... |
ORPHA:64744 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Complement deficiency, Eosinophilia |
ORPHA:449427 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteine... |
ORPHA:33226 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... |
ORPHA:94080 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... |
ORPHA:77259 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Elevated circulating aspartate aminotransferas... |
ORPHA:99829 |
Igg4-Related Kidney Disease |
|
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... |
ORPHA:449395 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... |
ORPHA:400 |
Extracranial Carotid Artery Aneurysm |
|
Hypertension, Cerebral ischemia, Stroke, Vasculitis, Arteritis, Subarachnoid hemorrhage |
ORPHA:494424 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Increased c... |
ORPHA:228123 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
Brucellosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Lymphadenopathy, Anemia, Increased circul... |
ORPHA:1304 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Leukemia, Decreased circulating... |
OMIM:210900 |
Japanese Encephalitis |
|
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Leukemia, Defective B cell differentiation, Decreased circulatin... |
OMIM:208900 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... |
OMIM:242700 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis |
ORPHA:231625 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neut... |
OMIM:260920 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Melena, Muscle hemorrh... |
ORPHA:464321 |
Orotic Aciduria |
|
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Reduced orotidine 5-prime ph... |
OMIM:258900 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Epistaxis, Cerebral ischemia, High-output congestive heart failure, Congestive he... |
ORPHA:137667 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Lymph node hypopl... |
OMIM:613179 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... |
ORPHA:369929 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... |
ORPHA:221139 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... |
ORPHA:79330 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Abnormal myelination |
OMIM:618324 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia, Petechiae |
OMIM:617397 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Good Syndrome |
|
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop... |
ORPHA:169105 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Decreased specific anti-polysaccharide antibody level, El... |
OMIM:614576 |
Autoerythrocyte Sensitization Syndrome |
|
Ecchymosis, Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Gastrointestinal h... |
ORPHA:324636 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased proport... |
OMIM:242840 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... |
OMIM:187300 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Mitral regurgitation, Epistaxis, Stroke, Hematochezia, Cerebral arteriovenous mal... |
OMIM:175050 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... |
ORPHA:2298 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Splenom... |
ORPHA:99827 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Increased circulating interleukin 6, Increased circulating IgA level, Lymphadenopat... |
OMIM:256040 |
Alveolar Echinococcosis |
|
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Anemia, Abnorm... |
ORPHA:284 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage |
ORPHA:85212 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Increased circulat... |
OMIM:610377 |
Selective Igm Deficiency |
|
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... |
ORPHA:331235 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Dec... |
ORPHA:183675 |
Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171300 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Congestive heart... |
ORPHA:99901 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris |
OMIM:177850 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Q Fever |
|
Hepatomegaly, Cryoglobulinemia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Abnormality of ... |
ORPHA:781 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Wiskott-Aldrich Syndrome |
|
Intracranial hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Recurrent intrapulmonary hemorr... |
ORPHA:906 |
Alg12-Cdg |
|
B lymphocytopenia, Complete or near-complete absence of specific antibody response to tetanus vac... |
ORPHA:79324 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocy... |
ORPHA:77261 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage |
OMIM:241500 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... |
ORPHA:276621 |
Poems Syndrome |
|
Lymphadenopathy, Thrombocytosis, Increased circulating antibody level, Polycythemia |
ORPHA:2905 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Riddle Syndrome |
|
Decreased circulating IgA level, Generalized lymphadenopathy, Decreased circulating IgG level, De... |
ORPHA:420741 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension |
OMIM:618886 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Cirrhosis, Decreased circu... |
ORPHA:90363 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Polysplenia, Splenomegaly |
ORPHA:373 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... |
ORPHA:79329 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Hypertension, Aortic regurgitation, Stroke, Transient ischemic attack, Hypovolemia, Subarachnoid ... |
ORPHA:91387 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Decreased circulating IgA level, Decreased circul... |
OMIM:212065 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:606054 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ... |
ORPHA:125 |
Hemorrhagic Fever-Renal Syndrome |
|
Ecchymosis, Hypertension, Shock, Intracranial hemorrhage, Petechiae, Palpitations, Subconjunctiva... |
ORPHA:340 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Absence of CD8-positive T cells, Hepat... |
ORPHA:911 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Decreased lymphocyte pro... |
ORPHA:83471 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Kaposiform Lymphangiomatosis |
|
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Abnormal bleeding, Bruisi... |
ORPHA:464329 |
Lissencephaly 8 |
|
Abnormal myelination |
OMIM:617255 |
Al Amyloidosis |
|
Hepatomegaly, Anemia, Abnormality of the liver, Increased circulating antibody level, Howell-Joll... |
ORPHA:85443 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Increased circulating antibody level, Ge... |
OMIM:181000 |
Classic Homocystinuria |
|
Hypertension, Intracranial hemorrhage, Cerebral ischemia, Subcutaneous hemorrhage, Gastrointestin... |
ORPHA:394 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... |
ORPHA:29072 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... |
ORPHA:1830 |
Immunodeficiency 58 |
|
Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re... |
OMIM:618131 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Congestive heart failure, Aortic val... |
ORPHA:363618 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Parkes Weber Syndrome |
|
High-output congestive heart failure, Bounding pulse, Abnormal bleeding, Subarachnoid hemorrhage,... |
ORPHA:90307 |
Mirage Syndrome |
|
Intracranial hemorrhage, Petechiae |
OMIM:617053 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Angina pectoris, Subcutaneous hemorrhage |
ORPHA:109 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... |
ORPHA:3132 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Gliosis, Abnormal myelination |
ORPHA:280210 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... |
ORPHA:91500 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Normocytic anemia, Thrombocytopenia, Cryoglobulinemia, Leukopenia, Decr... |
ORPHA:289390 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia |
OMIM:608836 |
Hellp Syndrome |
|
Prolonged prothrombin time, Internal hemorrhage, Hypotension, Cerebral hemorrhage |
ORPHA:244242 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage |
ORPHA:90795 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Intracranial hemorrhage, Vasculitis in the skin, Raynaud phenomenon, Tran... |
ORPHA:3260 |
Dubowitz Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Aplastic anemia, Acute lymphobl... |
OMIM:223370 |
Viss Syndrome |
|
Decreased circulating IgA level, Increased circulating IgE level, Hypereosinophilia, Increased ci... |
OMIM:619472 |
Postinfectious Vasculitis |
|
Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Viral he... |
ORPHA:48435 |
Lysinuric Protein Intolerance |
|
Leukopenia, Decreased circulating antibody level, Anemia, Complement deficiency, Increased circul... |
ORPHA:470 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Arterial rupture, B... |
ORPHA:536545 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arterial hypertension, Stroke, Pulmonary e... |
ORPHA:79282 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage |
ORPHA:79284 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontaneous hematomas |
ORPHA:565 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
Hutchinson-Gilford Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... |
ORPHA:740 |
Gaucher Disease |
|
Hepatomegaly, Hepatitis, Anemia, Splenomegaly, Cirrhosis, Increased circulating antibody level, P... |
ORPHA:355 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage |
OMIM:619055 |
Juvenile Polyposis Syndrome |
|
Epistaxis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Extrahepatic portal... |
ORPHA:2929 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Heart murmur |
ORPHA:163979 |
Acute Liver Failure |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal... |
ORPHA:90062 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Nelson Syndrome |
|
Hypertension, Intracranial hemorrhage |
ORPHA:199244 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Increased circ... |
ORPHA:99826 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Hepatomegaly, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... |
ORPHA:83617 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Increased blood pressure, Stroke, Retinal hemorrhage |
ORPHA:90324 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Increased circulating interleukin 6, Abnormality of chemokine secret... |
ORPHA:544482 |
Superficial Siderosis |
|
Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma, Subarachnoid hemorrhage |
ORPHA:247245 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage |
ORPHA:2356 |
Hydranencephaly |
|
Abnormal cerebral artery morphology, Antenatal intracerebral hemorrhage |
ORPHA:2177 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode |
ORPHA:86309 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Phace Syndrome |
|
Abnormal cerebral artery morphology, Cerebral arteriovenous malformation |
ORPHA:42775 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Abnormal myelination |
ORPHA:34527 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Meningioma |
|
Cerebral hemorrhage, Syncope |
ORPHA:2495 |
Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage |
ORPHA:221061 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage |
ORPHA:139417 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormal myelination |
ORPHA:442835 |
Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Aortic regurgitation, Bruising susceptibility |
ORPHA:666 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis |
ORPHA:363958 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Corneal neovascularization, Ischemic stroke |
OMIM:175780 |
Monosomy 18Q |
|
Astrocytoma, Abnormal myelination, Patent ductus arteriosus |
ORPHA:1600 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Digeorge Syndrome |
|
Abnormality of the thymus, Cholelithiasis, Impaired T cell function |
OMIM:188400 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Astrocytosis |
ORPHA:309854 |
Loeys-Dietz Syndrome 3 |
|
Atrial fibrillation, Mitral regurgitation, Tortuous cerebral arteries, Dilatation of the cerebral... |
OMIM:613795 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Decreased circulating IgG level, Absent gallbladder |
ORPHA:500150 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy |
ORPHA:466768 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Gliosis, Abnormal myelination, Delayed myelination |
ORPHA:404454 |
Sarcoidosis |
|
Hemolytic anemia, Leukopenia, Increased T cell count, Anemia, Decreased liver function, Hepatic f... |
ORPHA:797 |
Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Angina pectoris |
ORPHA:79318 |
Degcags Syndrome |
|
Abnormal myelination, Patent ductus arteriosus |
OMIM:619488 |
Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination, Patent ductus arteriosus |
ORPHA:434179 |