Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... |
OMIM:614493 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:619041 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased glucagon level, Palpitations... |
OMIM:619290 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypertension, Premature coronary artery atherosclerosis, Myocardial infarction... |
OMIM:608320 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... |
OMIM:619774 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:611926 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... |
OMIM:618849 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... |
OMIM:615513 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... |
OMIM:617241 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Hypertension, Premature coronary artery atherosclerosis, Sudden cardi... |
OMIM:610947 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... |
OMIM:618982 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... |
OMIM:618534 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Pancreatitis, Hypertension, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis,... |
ORPHA:79084 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:601859 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Type I diabetes mellitus, Cereb... |
ORPHA:1192 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating t... |
OMIM:619802 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Premature coronary artery atherosclerosis, Congestive heart failure, Type II diabet... |
OMIM:615703 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia |
OMIM:206100 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... |
ORPHA:70593 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... |
OMIM:202700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:613502 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling |
OMIM:600121 |
Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
Gcgr-Related Hyperglucagonemia |
|
Diabetes mellitus, Increased glucagon level, Neoplasm of the pancreas, Abnormal biliary tract mor... |
ORPHA:438274 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Large for ges... |
OMIM:601820 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... |
OMIM:200700 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hypothyroidism, Failure to thrive, Hyperglycemia, T... |
ORPHA:99886 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hepatomegaly, Hyperglycemia, Acute pancreatitis, Coronary artery atherosclerosis, P... |
OMIM:608600 |
Grange Syndrome |
|
Hypertension, Syndactyly, Aortic regurgitation, Short palm, Patent ductus arteriosus, Arterial st... |
ORPHA:79094 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... |
OMIM:619598 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody level, Anemia, Thrombocy... |
OMIM:615285 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:619510 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Diabetes mellitus, Ischemic stroke, Intracranial hemorrhage, Hyperte... |
ORPHA:136 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618108 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, B lymphocytopenia,... |
ORPHA:277 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia, Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia |
OMIM:615214 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor... |
OMIM:147891 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... |
OMIM:618944 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Vasculitis, Hypertension, Ascending tubular aorta aneurysm, Cere... |
ORPHA:3287 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot p... |
ORPHA:1988 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:612692 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly |
OMIM:185000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:603909 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre... |
OMIM:615607 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... |
OMIM:618969 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... |
OMIM:617514 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Accelerated atherosclerosis, Type II diabetes mellitus, Coronary artery atheroscler... |
OMIM:618620 |
Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... |
OMIM:617021 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:618495 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... |
OMIM:619281 |
Dysbetalipoproteinemia |
|
Aortic atherosclerotic lesion, Diabetes mellitus, Obesity, Hepatomegaly, Premature coronary arter... |
ORPHA:412 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... |
ORPHA:276 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... |
OMIM:209950 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Coronary artery stenosis, Truncal obesity, Hypertension, Hyperglycemia, Type II diabetes ... |
OMIM:615812 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... |
OMIM:619632 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Decreased proportion of memory B cells, Increased CD4:CD8 ratio,... |
OMIM:618048 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Autoimmune thromb... |
OMIM:300853 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... |
OMIM:618986 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Abnormality of body mass index, Maturity-ons... |
OMIM:616329 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... |
OMIM:616860 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... |
OMIM:600802 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Hypertension, Decreased circulating ACTH level, Hyperglycem... |
OMIM:615954 |
Mody |
|
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Overwei... |
ORPHA:552 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Hyperglycemia, Type I diabetes mellitus |
OMIM:606176 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis, Hypertension |
ORPHA:820 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity, Lymphopenia, Increased mean cor... |
OMIM:127550 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Small for gestational age, Postprandial hyperglycemia, Hyperinsulinemia, Hy... |
OMIM:262190 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small for gestational age, Short ribs, Rhizomelia, Short tibia, Failure to thrive,... |
OMIM:607143 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hypertension, Hyperinsulinemia, Cirrhosis, Hyperglycemia, Type II diabetes mel... |
OMIM:604367 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... |
OMIM:243700 |
Majeed Syndrome |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... |
OMIM:609628 |
Zollinger-Ellison Syndrome |
|
Adrenocortical adenoma, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Incr... |
ORPHA:913 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Poikilocytosis, Splenomegaly |
OMIM:615234 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... |
ORPHA:911 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Diabetes mellitus, Pancreatitis, Hypertension, Hepatomegaly, Cirrhosis, Calf m... |
ORPHA:79083 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... |
OMIM:615767 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... |
OMIM:612447 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus |
OMIM:520000 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... |
OMIM:616005 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... |
OMIM:185500 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Micromelia, Sh... |
ORPHA:440354 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Decreased proportion ... |
ORPHA:331206 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Anemia of inadequate... |
ORPHA:86839 |
Immunodeficiency 43 |
|
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... |
OMIM:241600 |
Atelosteogenesis Type Ii |
|
Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae, Short phal... |
ORPHA:56304 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... |
OMIM:242700 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance, Precocious atherosclerosis |
OMIM:145750 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... |
ORPHA:91387 |
Wiskott-Aldrich Syndrome |
|
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... |
OMIM:301000 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Reduced circulating growth hormone concentration, Decreased cirrculating antimullerian hormone ci... |
OMIM:300845 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormality of humoral immunity, Autoimmune... |
ORPHA:572 |
Ivic Syndrome |
|
Short 1st metacarpal, Absent thumb, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Short... |
OMIM:147750 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Abdominal aortic calcification, Generalized arterial calcification... |
OMIM:208000 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Neutropenia, I... |
OMIM:617052 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
ORPHA:35078 |
Arterial Tortuosity Syndrome |
|
Cardiac arrest, Myocarditis, Hip dislocation, Hip dysplasia, Rocker bottom foot, Hypertrophic car... |
ORPHA:3342 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, D... |
OMIM:613011 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
Pgm3-Cdg |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Leukopenia... |
ORPHA:443811 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Fractured radius, Decreased fibular diameter, Limb undergrowth, Short ... |
OMIM:616897 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Aplastic anemia, Reduced natural killer cell activity, Increased circulating Ig... |
OMIM:308240 |
Shwachman-Diamond Syndrome |
|
Leukopenia, Normocytic anemia, Aplastic anemia, Anemia, Leukemia, Bone marrow hypocellularity, Ch... |
ORPHA:811 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Diabetes mellitus, Renal artery stenosis, Coronary artery atherosclerosis, Cerebral artery athero... |
OMIM:209010 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Reticulocytosis, Hemolytic anemia |
OMIM:611590 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Stroke, Abnormal cerebral vascular morphology, Abnormal metaphysis morphology, Precocious puberty... |
ORPHA:2637 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Atelosteogenesis, Type I |
|
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... |
OMIM:108720 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Delayed epiphyseal ossification, Glucose intolerance, Abnormality of the adrena... |
ORPHA:785 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Abnormal sacroilia... |
ORPHA:1860 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos... |
ORPHA:2688 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr... |
OMIM:606367 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obesity, Syndact... |
OMIM:615986 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:618394 |
Gaisböck Syndrome |
|
Stroke, Overweight, Increased circulating renin level, Diabetes mellitus, Elevated diastolic bloo... |
ORPHA:90041 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Pseudoxanthoma Elasticum |
|
Abnormal cerebral vascular morphology, Hypothyroidism, Hypertension, Sudden cardiac death, Angina... |
ORPHA:758 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Left ventricular outflow tract obstruction, Abnormal cardiac ventricular funct... |
ORPHA:439232 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Hypopituitarism, Cerebral hemorrhage, Syncope, Ischemic stroke, Hypertens... |
ORPHA:90065 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Hepatomegaly, Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Osteol... |
ORPHA:280365 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ... |
ORPHA:331235 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... |
OMIM:615758 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Pancreatitis, Hepatomegaly, Congestive heart failure, Hepatic steatosis, Insul... |
ORPHA:2348 |
Boutonneuse Fever |
|
Increased circulating IgG level, Thrombocytopenia, Leukopenia, Increased circulating IgM level |
ORPHA:83313 |
Atelosteogenesis Type I |
|
Abnormality of fibula morphology, Abnormal pancreatic duct morphology, Limb undergrowth, Rhizomel... |
ORPHA:1190 |
Greig Cephalopolysyndactyly Syndrome |
|
Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, 1-3 toe syndactyly, Prea... |
OMIM:175700 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Thrombocytopenia,... |
OMIM:226990 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Cerebral hemorrhage, Ischemic stroke, Hypertension, Decreased response to growth... |
ORPHA:280679 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Hemochromatosis, Type 4 |
|
Impaired glucose tolerance, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosi... |
OMIM:606069 |
Thalidomide Embryopathy |
|
Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo... |
ORPHA:3312 |
Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... |
OMIM:619652 |
Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
Orofaciodigital Syndrome Vi |
|
Clinodactyly, Coarctation of aorta, Postaxial polydactyly, Mesoaxial hand polydactyly, Micrognath... |
OMIM:277170 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Leukopenia, Lymphopenia, Decreased circulating IgG level, Spleno... |
OMIM:620210 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
ORPHA:3261 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis |
OMIM:616959 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... |
OMIM:301081 |
Grange Syndrome |
|
Coronary artery stenosis, Syndactyly, Renal artery stenosis, Finger clinodactyly, Carotid artery ... |
OMIM:602531 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic scapulae, Short femur, Mesomelic leg sh... |
ORPHA:93333 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Reticulocytop... |
ORPHA:300298 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... |
OMIM:616100 |
Achondroplasia |
|
Genu varum, Short ribs, Rhizomelia, Ulnar bowing, Short femur, Short femoral neck, Flared metaphy... |
OMIM:100800 |
Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... |
OMIM:211350 |
Atypical Werner Syndrome |
|
Delayed puberty, Hip dysplasia, Diabetes mellitus, Calf muscle hypertrophy, Fasting hyperinsuline... |
ORPHA:79474 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... |
OMIM:242860 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... |
OMIM:611788 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:614069 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... |
OMIM:617253 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Coarctation of aorta, Polydactyly, Hepatomegaly, Interrupted aortic arch, Failure ... |
ORPHA:17 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Sinus bradycardia, Patent ductus arteriosus, Pedal edema, Peripheral arterial ste... |
OMIM:126320 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Testicular atrophy, Abnormal metacarpophalangeal joint morphology, Diab... |
ORPHA:465508 |
Donohue Syndrome |
|
Fasting hypoglycemia, Long foot, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cell h... |
OMIM:246200 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Phace Association |
|
Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal carotid artery, Congenital ... |
OMIM:606519 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Hyperparathyroidism, Transient Neonatal |
|
Metaphyseal spurs, Stroke, Hyperparathyroidism, Short ribs, Short femur, Short long bone, Fractur... |
OMIM:618188 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... |
OMIM:617237 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... |
ORPHA:2442 |
Familial Renal Glucosuria |
|
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... |
ORPHA:69076 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Leukopenia, Anemia, Lymphopenia, Increased circulating IgG level... |
OMIM:615934 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig... |
OMIM:615816 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the calf musculature, Renal artery atherosclerosis, Diabetes mellitus, Pancreatiti... |
ORPHA:565612 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Increased serum testosterone level, Biliary cirrhosis, Increased body weigh... |
ORPHA:2298 |
Spondyloepiphyseal Dysplasia Congenita |
|
Flat acetabular roof, Dysplasia of the femoral head, Short femur, Short femoral neck, Abnormal fo... |
ORPHA:94068 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea... |
OMIM:615559 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Hyperglycemia, Microretrognathia, Tachycardia, Obesity |
OMIM:619737 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231222 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... |
ORPHA:101096 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... |
ORPHA:66529 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro... |
OMIM:308230 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE level, Lymphopenia,... |
ORPHA:508533 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Homozygous Familial Hypercholesterolemia |
|
Aortic atherosclerotic lesion, Mitral regurgitation, Abnormal internal carotid artery morphology,... |
ORPHA:391665 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Arteriovenous malformation, Telangiectasia of the skin, Abnormality of the low... |
ORPHA:1556 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
Gastrocutaneous Syndrome |
|
Type II diabetes mellitus, Coronary artery atherosclerosis |
ORPHA:2069 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hypereosinophilia, Autoimmune hemolytic anemia, Increased circul... |
OMIM:617388 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a... |
OMIM:275350 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
Menkes Disease |
|
Venous insufficiency, Abnormal metaphysis morphology, Intracranial hemorrhage, Abnormal carotid a... |
ORPHA:565 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Syncope, Transient ischemic attack, Cerebral ischemia, Hyperhidr... |
ORPHA:71493 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Decreased circulating... |
OMIM:301078 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo... |
ORPHA:507 |
Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
Immunodeficiency 40 |
|
Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Thrombocytopenia, T lympho... |
OMIM:616433 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive |
ORPHA:2089 |
Paget Disease Of Bone 2, Early-Onset |
|
Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of t... |
OMIM:602080 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pes planus, Hip dislocation, Hallux valgus, Prominent veins on trunk, Aortic root aneurysm, Diabe... |
ORPHA:536532 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal circulating interferon-gamma... |
ORPHA:79124 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Prominent superficial veins, Osteolytic defects of the... |
OMIM:608612 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... |
OMIM:618213 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... |
OMIM:300755 |
Short Syndrome |
|
Enlarged epiphyses, Small for gestational age, Slender long bone, Hyperglycemia, Glucose intolera... |
OMIM:269880 |
Lipodystrophy, Familial Partial, Type 2 |
|
Prominent superficial veins, Hypertension, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute p... |
OMIM:151660 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip dislocation, Short thumb, Tetralogy of Fallot, Prolonged neonatal jaundice, Micromelia, Shoul... |
OMIM:210710 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia |
OMIM:615966 |
Acromesomelic Dysplasia 3 |
|
Short finger, Short 1st metacarpal, Aplasia of the proximal phalanx of the 2nd finger, Bilateral ... |
OMIM:609441 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Impaired T cell function, Decreased circulating IgG level, Parti... |
OMIM:240500 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatocellular carcinoma, Impaired glucose tolerance, Glycosuria, Diabetes ... |
ORPHA:2088 |
Necrotizing Enterocolitis |
|
Peritonitis, Small for gestational age, Hypotension, Hyperglycemia, Shock, Bradycardia, Abnormal ... |
ORPHA:391673 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T cells, Decreased ... |
ORPHA:90362 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Aorta Coarctation |
|
Stroke, Pulmonary arterial hypertension, Coarctation of the descending aortic arch, Tetralogy of ... |
ORPHA:1457 |
Osteogenesis Imperfecta, Type X |
|
Rhizomelia, Micromelia, Short femur, Tibial bowing, Micrognathia, Fibular bowing, Genu valgum, Bo... |
OMIM:613848 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Eosinophilia, Panhypogammagl... |
OMIM:602450 |
Pseudoxanthoma Elasticum |
|
Stroke, Hypertension, Intermittent claudication, Weak pulse, Accelerated atherosclerosis, Angina ... |
OMIM:264800 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... |
ORPHA:231214 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Vasculitis, Pulmonary embolism, Pulmonary artery aneurysm, Arter... |
ORPHA:228116 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Aortic atherosclerotic lesion, Cholestasis, Cholesterol gallstones, Accelerated atherosclerosis, ... |
ORPHA:209902 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Impaired myocardial contractility, Adrenocortical adenoma |
ORPHA:681 |
8Q24.3 Microdeletion Syndrome |
|
Hip dysplasia, Hypoplastic aortic arch, Rocker bottom foot, Micromelia, Long fingers, Short 5th f... |
ORPHA:508488 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Neutrophilia, Inc... |
OMIM:617099 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of medium-sized arteries, Cerebral hemorrhage, Arteriosclerosis, Medial calc... |
OMIM:177850 |
Catel-Manzke Syndrome |
|
Short humerus, Camptodactyly, Coarctation of aorta, Short metacarpal, Short femur, Overriding aor... |
OMIM:616145 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen |
ORPHA:543 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... |
OMIM:102700 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... |
OMIM:208900 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hip dislocation, Hallux valgus, Aortic root aneurysm, Shoulder dislocation, Carotid artery stenos... |
OMIM:618000 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... |
OMIM:615363 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Stroke, Carotid artery stenosis, Transient ischemic attack, Arteriosclerosis of small cerebral ar... |
OMIM:600142 |
Cole Disease |
|
Hyperglycemia, Punctate palmoplantar hyperkeratosis, Palmoplantar keratoderma |
OMIM:615522 |
3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Pulmonic stenosis, Proximal pl... |
ORPHA:435638 |
Hutchinson-Gilford Progeria Syndrome |
|
Premature coronary artery atherosclerosis, Micrognathia, Angina pectoris, Congestive heart failur... |
OMIM:176670 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Down-sloping shoulders, Short distal phalanx of finger, Impaired glucose tolerance, Camptodactyly... |
OMIM:248370 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Failure to thrive, Hyperglycemia, Pancreatic aplasia, H... |
OMIM:609069 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Hyperglycemia, Biliary atresia, Absent gal... |
OMIM:615710 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Failure to thriv... |
ORPHA:99885 |
Williams Syndrome |
|
Stroke, Tetralogy of Fallot, Patellar dislocation, Hypothyroidism, Myocardial infarction, Choleli... |
ORPHA:904 |
Tangier Disease |
|
Hepatomegaly, Splenomegaly, Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis |
OMIM:205400 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG,... |
ORPHA:91139 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Coronary artery atherosclerosis, Autoimmune hypoparathyroidis... |
ORPHA:36913 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... |
OMIM:313900 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss |
ORPHA:134 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Failure to thrive |
OMIM:615453 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Oligoclonal T cell expansion, T lymphocytopenia, Decreased proportion of naive T cells, Decreased... |
ORPHA:83471 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Increased circulating interleukin 6 concentr... |
ORPHA:160 |
Multiple Myeloma |
|
Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased circulating a... |
ORPHA:29073 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Slender build, Hip dysplasia, Thin long bone diaphyses, Long fingers, Pu... |
ORPHA:3455 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Genu valgum |
OMIM:617798 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... |
OMIM:609945 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:614700 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... |
ORPHA:449432 |
Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis |
OMIM:616833 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Glycosuria, Pulmonic stenosis, Diabetes mellitus, Tetralogy of Fallot, Int... |
OMIM:600001 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Stroke, Jaundice, Pulmonary arterial hypertension, Hypotension, Bone-marrow f... |
ORPHA:275761 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Increased p... |
ORPHA:769 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Short humerus, Long foot, Increased serum testosterone level, Hypoplast... |
OMIM:264090 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... |
ORPHA:363618 |
Neurofibromatosis Type 1 |
|
Delayed puberty, Genu varum, Pheochromocytoma, Abnormal hip bone morphology, Hypertension, Slende... |
ORPHA:636 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Micrognathia, Short femur, Talipes, Patent ductus arteriosus, Talipes equinovarus, Br... |
OMIM:300990 |
Autoimmune Hepatitis |
|
Increased circulating IgG level, Splenomegaly, Increased circulating antibody level |
ORPHA:2137 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Thoracic a... |
OMIM:617168 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... |
OMIM:300291 |
Vici Syndrome |
|
Leukopenia, Decreased circulating IgG2 level, Cutaneous anergy, Neutropenia, Lymphopenia, T lymph... |
OMIM:242840 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly |
OMIM:617591 |
Thyrotoxic Periodic Paralysis |
|
Graves disease, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with toxic single t... |
ORPHA:79102 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Prominent protruding coccyx, Aplasia/Hyp... |
ORPHA:2839 |
Truncus Arteriosus |
|
Right aortic arch, Tetralogy of Fallot, Interrupted aortic arch, Abnormal heart valve physiology,... |
ORPHA:3384 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Abnormality of serum cytokine level, Increased circulating IgM level, I... |
ORPHA:297 |
Rift Valley Fever |
|
Increased circulating IgG level, Thrombocytopenia, Anemia, Increased circulating IgM level |
ORPHA:319251 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Short humerus, Short fifth metatarsal, Absent vertebra, Pulmonic stenosis, Sho... |
OMIM:134780 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Scorpion Envenomation |
|
Myocarditis, Stroke, Glycosuria, Arrhythmia, Hypertension, Prominent U wave, Hyperglycemia, Acute... |
ORPHA:466677 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:140905 |
Eisenmenger Syndrome |
|
Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Brain a... |
ORPHA:97214 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Camptodactyly of finger, Hip dysplasia, Arrhythmia, Cardiomyopathy, Hypertens... |
ORPHA:217085 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Premature coronary artery atherosclerosis, Fa... |
OMIM:615947 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Camptodactyly of finger, Hip dysplasia, Arrhythmia, Cardiomyopathy, Hypertens... |
ORPHA:217093 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hip dysplasia, Postprandial hyperglycemia, Cholestasis, Hepatitis, Por... |
ORPHA:440713 |
Dend Syndrome |
|
Hyperglycemia, Clinodactyly of the 4th finger |
ORPHA:79134 |
Brucellosis |
|
Lung abscess, Leukocytosis, Leukopenia, Liver abscess, Anemia, Granuloma, Increased circulating I... |
ORPHA:1304 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgM, Anemia, Decreased circulating total IgA, Reduced natural killer ... |
OMIM:619381 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal circulating in... |
ORPHA:391487 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Intermittent claudication, Atrioventricular block, Arterial occlusion, Periph... |
OMIM:259900 |
Leprechaunism |
|
Fasting hypoglycemia, Hyperaldosteronism, Long foot, Increased circulating renin level, Central h... |
ORPHA:508 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Dysgammaglobulinemia, T lymphoc... |
OMIM:251260 |
Mucopolysaccharidosis Type 2 |
|
Hip dysplasia, Arrhythmia, Cardiomyopathy, Hypertension, Hepatomegaly, Abnormal aortic morphology... |
ORPHA:580 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:620040 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short humerus, Tapered finger |
OMIM:618367 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Aortic root aneurysm, Hypoplasia of proximal radius, Obesity, De... |
ORPHA:444077 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Congenital hip dislocation, Aortic aneurysm, Telangiectasia of ... |
ORPHA:286 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia |
OMIM:607944 |
Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:425 |
Sitosterolemia 1 |
|
Coronary artery atherosclerosis, Splenomegaly, Carotid artery stenosis |
OMIM:210250 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Granuloma, Increased circulating IgM level |
ORPHA:562639 |
Tangier Disease |
|
Hepatosplenomegaly, Coronary artery stenosis, Carotid artery stenosis, Accelerated atherosclerosis |
ORPHA:31150 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Intrahepatic cholestasis, Glycosuria, Postprandial hyperglycemia, Hepatomeg... |
OMIM:227810 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Anemia, Decreased circulating IgA level, Decreased circulating I... |
OMIM:612301 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... |
OMIM:276820 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interferon-gamma concentration, Increased circulating IgA level, Increased ... |
OMIM:256040 |
Coccidioidomycosis |
|
Abscess, Granuloma, Increased circulating IgM level, Increased circulating IgG level, Eosinophili... |
ORPHA:228123 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Cholestasis, Recurrent hypoglycemia, Periportal fibrosis, Failure to thrive, Hypergl... |
OMIM:124000 |
Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Mitral regurgitation, Coarctation of aorta, Hypertension, Increased he... |
OMIM:220111 |
Bloom Syndrome |
|
Decreased circulating total IgM, Abscess, Acute lymphoblastic leukemia, Decreased circulating IgA... |
ORPHA:125 |
Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Complement deficiency, Eosinophilia |
ORPHA:449427 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Increased circulating IgM level, Increased circulating IgG level, Throm... |
ORPHA:99827 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Increased circulating IgG1 level, Increased circulating IgE lev... |
ORPHA:449395 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... |
ORPHA:79078 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hepatomegaly, Hypoglycemia, Failure to thrive |
ORPHA:3008 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Hypohidrosis, Increased circulating prolactin concentration, Central hypothyroid... |
ORPHA:293987 |
Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of the plantar skin of foot, Precocious atherosclerosis, Pes cavus, Abnormal finger m... |
ORPHA:909 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal distal phalanx morphology of finger, Abnormal metaphysis morphology, Abnormal finger mor... |
ORPHA:2636 |
Familial Osteodysplasia, Anderson Type |
|
Missing ribs, Hypertension, Bifid femur, Aplasia/hypoplasia of the femur, Aplastic clavicle, Clin... |
ORPHA:2769 |
Williams-Beuren Syndrome |
|
Down-sloping shoulders, Stroke, Hallux valgus, Mitral regurgitation, Pulmonic stenosis, Diabetes ... |
OMIM:194050 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating antibody level, Increased circulating IgG level, Normoch... |
ORPHA:91500 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Delayed puberty, Neoplasm of the liver, Hepatomegaly, Cirrhosis, Cherry red spot of the macula, H... |
ORPHA:77293 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Eosinophilia |
ORPHA:449563 |
Cockayne Syndrome Type 3 |
|
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Hepato... |
ORPHA:90324 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |