Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Immunodeficiency 106, Susceptibility To Viral Infections |
|
Post-vaccination yellow fever, Post-vaccination measles |
OMIM:619935 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod... |
OMIM:618261 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Recurrent bacterial meningitis, Reduced natural killer cell a... |
OMIM:300400 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Eczema, Recurrent infections |
OMIM:614493 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... |
OMIM:618986 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... |
OMIM:226990 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Dysgammaglobulin... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase... |
OMIM:615559 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... |
OMIM:613101 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... |
OMIM:619374 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res... |
OMIM:618944 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Re... |
OMIM:616050 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Early Myoclonic Encephalopathy |
|
Recurrent respiratory infections, Lethargy, Dysphagia |
ORPHA:1935 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617388 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Lymphoprolif... |
ORPHA:276 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c... |
OMIM:608106 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, Post-vaccination polio, Recurrent infections |
OMIM:616941 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczemato... |
OMIM:269840 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... |
OMIM:613500 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infect... |
OMIM:300635 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Recurrent candida infectio... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Decreased circulating total IgM... |
OMIM:613493 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Corneal dystrophy, Developmental cataract, Decreased circulating antibody... |
ORPHA:2572 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... |
OMIM:243700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:613502 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... |
OMIM:606843 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci... |
OMIM:616636 |
Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... |
OMIM:619773 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:612692 |
Immunodeficiency 62 |
|
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... |
OMIM:618459 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Complete or near-complete absence of specif... |
OMIM:607271 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci... |
OMIM:137100 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy |
OMIM:605899 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypoproteinemia, Skin rash, Hypertrigl... |
OMIM:603553 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Large vessel vasculitis, Abnormal delayed hypersensitivity skin test, I... |
OMIM:301000 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... |
ORPHA:572 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Seps... |
ORPHA:319218 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B... |
OMIM:615513 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis,... |
OMIM:620282 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin... |
OMIM:601457 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Recurrent infectio... |
OMIM:301045 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:619386 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Gait disturbance, Anorexia |
ORPHA:79283 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,... |
OMIM:617744 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Persistent EBV viremia, Recurrent in... |
OMIM:617514 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent... |
OMIM:607594 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... |
OMIM:618982 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... |
ORPHA:98813 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Sepsis, Hyperammonemia, Choreoathetosis, Lethargy, Pancreatitis |
ORPHA:289916 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency... |
ORPHA:2334 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Recurrent respiratory infections, Hyperactivity, Bipolar affective disorder, Astigmatism, Compuls... |
OMIM:619927 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... |
OMIM:609529 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Ataxia, Lethargy... |
ORPHA:99745 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... |
OMIM:617872 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Low alkaline phosphatase, Recurrent candida infec... |
OMIM:201100 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Lymphoproliferative disorder |
OMIM:609981 |
Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Lethargy, Ataxia, Difficulty walking |
OMIM:617829 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... |
OMIM:616576 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... |
OMIM:610947 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Skin rash, Gait disturbance |
ORPHA:26 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Inflammation of the large inte... |
OMIM:615767 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Vernal Keratoconjunctivitis |
|
Abnormal cornea morphology, Punctate keratitis, Abnormal conjunctiva morphology, Corneal neovascu... |
ORPHA:70476 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent pn... |
ORPHA:277 |
Meningococcal Meningitis |
|
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Anorexia, Sepsis, Hypote... |
ORPHA:33475 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Ataxia, Decreased liver fu... |
OMIM:246900 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Persistent CMV viremia, Bronchiectasis, Increased circulating IgG level, I... |
OMIM:619220 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Hepatomegaly, Hep... |
OMIM:308230 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Severe varicella zoster infection, S... |
OMIM:615122 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Prolonged bleeding time, Reduced natural killer cell activity, Recurrent pneumonia,... |
OMIM:608233 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Reduced dihydropyrimidine dehydrogenase level |
OMIM:274270 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... |
OMIM:300636 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infection... |
OMIM:613496 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Increased circulating ferritin concentration, Dilated car... |
OMIM:602390 |
Glut1 Deficiency Syndrome 1 |
|
Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia |
OMIM:606777 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Recurrent infections, Decreased circulating total IgM, Defec... |
OMIM:619774 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Nodular regenerati... |
ORPHA:404454 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy, Recurrent infections |
OMIM:251240 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Ataxia |
OMIM:618683 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:618987 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Lethargy |
OMIM:618224 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Elevated circ... |
ORPHA:2394 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Encephalitis Lethargica |
|
Lethargy, Increased circulating antibody level, Bradycardia, Recurrent viral infections |
ORPHA:83600 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tr... |
OMIM:616100 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:619824 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... |
OMIM:618282 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Bronchiectasis, Recurrent infections, Hepatosplenomegaly, Increa... |
OMIM:618534 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Ataxia |
ORPHA:622 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper res... |
ORPHA:436159 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpi... |
ORPHA:276556 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking |
OMIM:613710 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Acute Lung Injury |
|
Shock, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated... |
ORPHA:178320 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Abnormal natur... |
ORPHA:158061 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections |
ORPHA:169079 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Increased circulating antibody level, Recurrent infections |
OMIM:615285 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Hematolo... |
ORPHA:3243 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616910 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc... |
OMIM:278730 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Pneumonia, Elevated circulating C-reactive protein concentration, Severe infection, Sepsis... |
ORPHA:36238 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Severe Canavan Disease |
|
Inability to walk, Lethargy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Cataract, Ataxia, Recurrent infections, Panhypogammaglobulinemia |
ORPHA:251009 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Lethargy, Abnormal bleedin... |
ORPHA:470 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Sepsis, Decreased circulating antibody level, Chroni... |
ORPHA:33355 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Increased circulating lactate dehydrogenase concentration, Eczema, Recurrent pneumonia, Recurrent... |
OMIM:617780 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpi... |
ORPHA:276575 |
Immunodeficiency 25 |
|
Recurrent herpes, Increased circulating IgA level, Recurrent pneumonia, Increased circulating IgE... |
OMIM:610163 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Meningitis, Sepsis |
OMIM:618847 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Telangiectasia of the skin, Atax... |
ORPHA:100 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... |
ORPHA:48435 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Rickets, Glycosuria |
OMIM:615605 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Dila... |
ORPHA:79230 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Intraventricular hemorrhage, Recurrent infections, Hyperhomocystine... |
ORPHA:79284 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Hypoalbuminemia, Lethargy,... |
ORPHA:99826 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hepatic steatosis, Lethargy |
ORPHA:26792 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,... |
OMIM:614878 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiadochokinesis, Decreased liver f... |
OMIM:238970 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Limbal stem cell deficiency, Corneal neovascularization, Chronic rhinitis |
OMIM:615225 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Pso... |
OMIM:615577 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Lethargy |
OMIM:617065 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig... |
ORPHA:2643 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen... |
ORPHA:329918 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C-reactive protein concent... |
OMIM:618048 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy |
OMIM:500007 |
Scrub Typhus |
|
Abnormal bleeding, Anterior uveitis, Skin rash, Myocarditis, Hypotension, Lethargy, Meningitis, I... |
ORPHA:83317 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, BCGosis, Recurrent pneumonia... |
OMIM:619644 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperammonemia, Gait ... |
OMIM:618120 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopath... |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpi... |
ORPHA:324575 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy, Lethargy |
ORPHA:254857 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:613561 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Recurrent respiratory infections, Eczema, Decreased circulating anti... |
OMIM:618116 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Lethargy, Pancreatitis |
ORPHA:79312 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Pneumonia, Incr... |
OMIM:613179 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circulating total Ig... |
OMIM:607143 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Agammaglobulinemia, X-Linked |
|
Sepsis, Conjunctivitis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, I... |
OMIM:300755 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Retinal hemorrhage, Anisocoria, Conjunctivitis, Apath... |
ORPHA:863 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Cerebral ischemia,... |
ORPHA:927 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Biotinidase Deficiency |
|
Skin rash, Ataxia, Recurrent viral infections, Recurrent candida infections, Hyperammonemia, Recu... |
ORPHA:79241 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Hyperhomocysti... |
OMIM:236270 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... |
OMIM:618131 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Lethargy, Ataxia |
ORPHA:71277 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Leth... |
OMIM:222748 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:613011 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Recurrent pn... |
OMIM:170100 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Bipolar affective disorder, Acne, Impaired T cell function, Cataract... |
ORPHA:567 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Gingival bl... |
ORPHA:99828 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Hyperglutamatemia, Hyperammonemia, Aggressive behavior |
OMIM:237310 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Vasculitis in the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of t... |
ORPHA:3392 |
Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... |
OMIM:615468 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulating tot... |
OMIM:618394 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Skin rash, Recurren... |
OMIM:277380 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Pulmonary arterial... |
OMIM:619064 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Portal hypertensio... |
ORPHA:79124 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula... |
ORPHA:163934 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy, Ataxia |
OMIM:618225 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Ataxia, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Lethargy, Pancreatitis |
ORPHA:27 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Choreoathetosis, Episodic ataxia, Hyperalaninemia, Lethargy |
OMIM:312170 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
Necrotizing Enterocolitis |
|
Shock, Neonatal sepsis, Hyponatremia, Peritonitis, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Lethargy, Perioral eczema |
ORPHA:79242 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumoni... |
OMIM:619652 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Right ventricular failure, Third he... |
ORPHA:1329 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Hypertrophic cardiomyopathy, Ataxia |
OMIM:618228 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... |
OMIM:617591 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu... |
ORPHA:98827 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Ataxia, Lethargy, Dysphagia |
OMIM:618226 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Unsteady gait, Gait disturbance |
OMIM:603896 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Depression, Lethargy, Polydipsia |
ORPHA:178029 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Myelodysplasia, Neutropenia |
OMIM:617827 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Ataxia, Gait ataxia |
ORPHA:101150 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Tachycardia, Agitation |
ORPHA:276608 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy, P... |
OMIM:616483 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Lethargy |
ORPHA:49827 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:212138 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Transient hyperlip... |
ORPHA:156 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Hepatosplenomegaly, D... |
OMIM:619750 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulat... |
ORPHA:353298 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Ataxia, Dilated cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninem... |
ORPHA:254913 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Lethargy |
OMIM:610498 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Choreoathetosis, Lethargy, Dysphagia, Hyperphenylalaninemia |
OMIM:233910 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase co... |
OMIM:615838 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis |
ORPHA:163703 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Inflammatory abn... |
ORPHA:26793 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... |
ORPHA:83471 |
Immunodeficiency 22 |
|
Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Decreased circulating... |
OMIM:615758 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Recurrent infections, Decreased circulating antibody level, Hyp... |
OMIM:226300 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ... |
OMIM:616005 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd... |
OMIM:201475 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Impulsivity, Lethargy, Abnormality of circulati... |
ORPHA:35706 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Increased circulating ferritin concentration, Thrombo... |
ORPHA:158048 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ... |
OMIM:619767 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Ataxia, Decreased circulating total IgM, Lethargy, Decreased circulating IgG level,... |
OMIM:275350 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Propionic Acidemia |
|
Hepatomegaly, Eczema, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hyperglycinemia, Pro... |
OMIM:606054 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia, Lethargy, Prolonged neonatal jaundice |
ORPHA:95717 |
Citrullinemia Type I |
|
Ataxia, Hyperammonemia, Elevated plasma citrulline, Lethargy, Hepatic failure |
ORPHA:247525 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Prolonged QT interval, Elevated hepatic transaminase, Abnormal circulating... |
ORPHA:71212 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Hyperkalemia, Sepsis, Hepatitis, ... |
ORPHA:199299 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Decreased circulating coppe... |
OMIM:300972 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Congestive heart failure, Increased circul... |
ORPHA:465508 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... |
ORPHA:86816 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Lethargy, Hyperammonemia |
ORPHA:28 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Increased... |
OMIM:256500 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Cataract, Skin rash, Elevated circulating creatine kinase concentr... |
OMIM:610377 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Hashimoto thyroiditis, Hepatomegaly, Ataxi... |
OMIM:615688 |
Isovaleric Acidemia |
|
Lethargy, Cerebellar hemorrhage, Bone marrow hypocellularity |
OMIM:243500 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneu... |
OMIM:614700 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Recurrent i... |
ORPHA:634 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Ataxia, Dysmetria, Truncal ataxia |
OMIM:250620 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:420741 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransf... |
OMIM:608836 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Anorexia, Cheilitis, Decrea... |
ORPHA:90045 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Evans Syndrome |
|
Epistaxis, Jaundice, Syncope, Lethargy, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Tubulointerstitial n... |
OMIM:251000 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Decreased lymphocyte prolifera... |
OMIM:606367 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Increase... |
ORPHA:90280 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiec... |
ORPHA:1572 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Elevated ci... |
ORPHA:159 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Hyperglycinemia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:614299 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Bronchiectasis, Cholestasis, Recurrent otitis media, Pulmo... |
OMIM:620233 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Hyperhomocysti... |
OMIM:614857 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Decreased circulating a... |
OMIM:615952 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Increased... |
ORPHA:186 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy |
OMIM:615026 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... |
OMIM:617241 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... |
OMIM:612840 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Macronodular cirrhosis, Recurrent infectio... |
OMIM:557000 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Acute infectious pneumonia, Interstitial pneumonitis, Increased... |
ORPHA:723 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia |
ORPHA:30925 |
Central Neurocytoma |
|
Lethargy, Ataxia, Depression |
ORPHA:73256 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Agamma... |
OMIM:619705 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy |
OMIM:611523 |
Good Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... |
ORPHA:169105 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Hypoargin... |
OMIM:237300 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Anorexia... |
ORPHA:20 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobulin level, Neo... |
ORPHA:95716 |
Pyruvate Dehydrogenase Deficiency |
|
Choreoathetosis, Lethargy, Ataxia, Gait disturbance |
ORPHA:765 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Atrial fibrillation, Bipolar affective disorder, Elevated circulat... |
ORPHA:254892 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopathy, Mitral regurgitat... |
ORPHA:746 |
Posterior Urethral Valve |
|
Hypertension, Recurrent urinary tract infections, Lethargy, Pyelonephritis |
ORPHA:93110 |
Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Meningitis... |
ORPHA:781 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Ataxia, Elevated circulating L-allo... |
OMIM:248600 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, B-cell lymphoma, Splenome... |
OMIM:619381 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Hepatomegaly, Invasive parasitic infection, Unusual infection, Jau... |
ORPHA:400 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy |
OMIM:617105 |
Susac Syndrome |
|
Lethargy, Apathy, Gait ataxia |
ORPHA:838 |
Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin, Increased circulating antibody level |
ORPHA:90000 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Restlessness, Sinusitis, Ataxia, Pneumonia, Pustule, Lethargy, Arrhythmia... |
ORPHA:68 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Hyperammonemia... |
OMIM:253260 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Ataxia, Elevated circulating alpha-fetoprotein concentrat... |
OMIM:208900 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent skin infections, Eczema, Keratitis, Recurrent upper respiratory tract infections, Hyper... |
OMIM:308205 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating uraci... |
OMIM:311250 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Transient ischemic attack, Abnormal immunoglobulin level, Recurrent infections, De... |
OMIM:242900 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Polycor... |
OMIM:175780 |
Primary Intestinal Lymphangiectasia |
|
Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, H... |
ORPHA:90362 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Cataract, Skin rash, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxi... |
OMIM:618321 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased... |
OMIM:215600 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Lethargy, Intrahepatic b... |
OMIM:614866 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Absent speci... |
OMIM:102700 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating transferrin conc... |
ORPHA:90363 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Pneumonia, Recurrent upper respiratory tract infections, Increased circulating IgE ... |
OMIM:602450 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Hepatomegaly, Decreased circulating antibody level, Recurrent infections |
OMIM:605309 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Hypokalemia, Anorexia, Hepatosplenomegaly |
OMIM:611590 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy |
OMIM:604377 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurre... |
ORPHA:293978 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Abnormal temper tantrums, Skin-picking, Lethargy, Polyphagia |
ORPHA:398079 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Limbal ... |
ORPHA:2363 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Spastic ataxia... |
OMIM:277410 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Abnormality of th... |
ORPHA:97214 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Sk... |
ORPHA:398069 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Lethargy, Petechiae |
OMIM:617397 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Lethargy, Hyperlipidemia |
ORPHA:2089 |
Bloom Syndrome |
|
Recurrent herpes, Recurrent urinary tract infections, Skin rash, Pneumonia, Severe varicella zost... |
ORPHA:125 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Neutrophilia, Recurrent pharyngitis, Leukocytosis, Splenomegaly, H... |
ORPHA:829 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Shuffling gait, Lethargy |
ORPHA:276432 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Increased circulatin... |
ORPHA:542323 |
Insulinoma |
|
Lethargy, Polyphagia, Palpitations |
ORPHA:97279 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Hyperhomocystinemia, Hypertension, Abnormality of the liver, Lethargy |
ORPHA:2169 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Recurrent infections, Hepatosplenomega... |
OMIM:260920 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Spastic gait, Hepatitis, Hyperammonemia, Hyperornith... |
ORPHA:415 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Enterocolitis, Decreased circulating a... |
OMIM:243150 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Sepsis, Leukopenia, Hypoalbuminem... |
ORPHA:292 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Hypercalcemia |
OMIM:143880 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Erythroderma, Hepatic cysts, Recurrent infections |
OMIM:617425 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Elevated circulating 2-hydroxybutyric acid concentration, Pulmonary arterial hypertension, Hyperg... |
OMIM:605711 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... |
ORPHA:36234 |
Medulloblastoma |
|
Elevated hepatic transaminase, Ataxia, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar a... |
ORPHA:616 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy |
OMIM:201450 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Lethargy, Inability to walk, Dysphagia |
OMIM:607483 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Supernumerary nipple |
OMIM:614376 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Bradycardia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, H... |
ORPHA:90674 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Decreased liver function, Lethargy, Hepatic steatosis |
OMIM:614922 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Jaundice, Hepatitis, Decreased circulating antibody level, Bone marrow hypo... |
ORPHA:381 |
Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis... |
OMIM:215700 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Hypomethioninemia, Ataxia, Hyperhomocystin... |
ORPHA:395 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Recurrent r... |
ORPHA:79324 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... |
ORPHA:173 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Tongue thrusting, Choreoathetosis, Athetosis, Hypotension, Lethargy |
OMIM:608643 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal bleeding, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Chronic infection, Leukocytosis, Abnorma... |
ORPHA:86839 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Warburg-Cinotti Syndrome |
|
Limbal stem cell deficiency, Corneal neovascularization, Decreased corneal thickness, Symblepharon |
OMIM:618175 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Cataract, Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Hy... |
ORPHA:469 |
Angiostrongyliasis |
|
Increased circulating IgA level, Unusual CNS infection, Increased circulating specific IgE antibo... |
ORPHA:74 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia, Hypoornithin... |
OMIM:615751 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... |
ORPHA:2298 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Propionyl-CoA carbo... |
OMIM:210210 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami... |
OMIM:207900 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... |
ORPHA:29073 |
Icf Syndrome |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:2268 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections |
ORPHA:764 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... |
OMIM:618213 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased circu... |
OMIM:618183 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Pulmonary embolism, Jaundice, Dilated cardiomy... |
ORPHA:79282 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen... |
ORPHA:289390 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Jaundice, Leukocytosis, Splenic infarction, Recurrent bacterial i... |
OMIM:603903 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Hypertension, Astigmatism, Lethargy |
ORPHA:97362 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Abnormal circulating thyroglobulin level, Depression, Prolonged neonatal jaundice |
ORPHA:99832 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Lethargy |
OMIM:210200 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circul... |
OMIM:615846 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Limb ataxia, Gait ataxia, Decreased circulating antibody level, Recurrent bacterial... |
OMIM:248500 |
Mgat2-Cdg |
|
Abnormal bleeding, Reduced level of N-acetylglucosaminyltransferase II, Decreased circulating ant... |
ORPHA:79329 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Corneal opacity, Sepsis, Decreased circulating antibody level, Recurre... |
ORPHA:79396 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co... |
OMIM:251110 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... |
OMIM:137920 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Conjugated... |
ORPHA:567983 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentrat... |
ORPHA:466650 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Abnormal cir... |
OMIM:620306 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level, Cataract, Thyroiditis, Recurrent infections |
OMIM:158350 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Ataxia, Sutural cataract, Lethargy |
OMIM:201470 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Bradycardia, Prolonged neonatal jaundice, Lethargy, Ne... |
ORPHA:90673 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Hyperactivity, Dysgam... |
OMIM:251260 |
Hydranencephaly |
|
Lethargy, Meningitis, Antenatal intracerebral hemorrhage |
ORPHA:2177 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:606002 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Postural hypotension with compensatory t... |
ORPHA:85443 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Generalized morning stiffness, Limitation of joint mobility, Oligoarthritis, Enthesitis, Sacroili... |
ORPHA:85436 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co... |
OMIM:251100 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration |
ORPHA:247691 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Lethargy |
OMIM:229700 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Skin rash, Hyperammonemia |
OMIM:253270 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu... |
ORPHA:411634 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Recurrent respiratory infections, Ataxia, Increased circulating antibody level, Gai... |
ORPHA:77261 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:226316 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi... |
ORPHA:227990 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Ataxia, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:2609 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Hyperhomocysti... |
OMIM:277400 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi... |
ORPHA:227982 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Elevated circulating creatine kinase conce... |
OMIM:614576 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Jaundice, Bicarbonaturi... |
OMIM:229600 |
Cysticercosis |
|
Ataxia, Iridocyclitis, Apathy, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Erythroderma |
ORPHA:3162 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Abnormal blee... |
ORPHA:3261 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Acute colitis, Pn... |
ORPHA:544482 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Concentric hypertrophic cardiomyopathy, Hyperalaninemia, Hypertrophic cardi... |
OMIM:252010 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Abnormal circulating enzyme concentration or activity, Jaundice |
ORPHA:676 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Portal hypertension, Hypersplenism, Intrahepatic ch... |
ORPHA:480520 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Recurrent respiratory infections |
ORPHA:935 |
Semilobar Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys... |
ORPHA:93924 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, Decreased serum iro... |
ORPHA:447 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections |
ORPHA:179494 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Apathy, Gait disturbance, Difficulty walking, Dysphagia, Lethargy |
ORPHA:306674 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level |
OMIM:114065 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... |
ORPHA:340 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Depression, Impaired collagen-induced platelet aggregation, Decreased circulat... |
OMIM:604928 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... |
OMIM:242840 |
Gaucher Disease |
|
Abnormal bleeding, Hepatomegaly, Osteomyelitis, Corneal opacity, Ataxia, Elevated circulating C-r... |
ORPHA:355 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Hyperlipidemia, Recurrent infections, B... |
ORPHA:1830 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Abnormal circulating thyroglobulin level, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226307 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastr... |
OMIM:612132 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Glycerol Kinase Deficiency |
|
Lethargy, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Elevated circulating C-reactive ... |
ORPHA:91500 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca... |
ORPHA:2968 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Shortened QT interval, Hematemesis, Depression, Melena, Hypertension, Le... |
ORPHA:652 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Diamond-Blackfan Anemia |
|
Lethargy, Developmental glaucoma, Developmental cataract, Elevated red cell adenosine deaminase a... |
ORPHA:124 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... |
ORPHA:449395 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Increased circula... |
ORPHA:449432 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Anorexia, Iridocyclitis, Bronchiectasis, Uveitis,... |
OMIM:181000 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Impaired T cell function, Recurrent infections |
OMIM:192430 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenome... |
OMIM:619534 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
Digeorge Syndrome |
|
Impaired T cell function, Recurrent pneumonia, Recurrent infections, Hypocalcemia, Recurrent sinu... |
OMIM:188400 |