Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
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 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:209850 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233690 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, Decr... |
ORPHA:183675 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Increased ci... |
OMIM:605258 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Impaired soci... |
OMIM:608636 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:306400 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Hereditary Geniospasm |
|
EEG abnormality, Abnormal social behavior |
ORPHA:53372 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper and lower respir... |
OMIM:608106 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Neutr... |
OMIM:606843 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... |
ORPHA:480520 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 32B |
|
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, B lymphocytopenia, Decreased circul... |
OMIM:616873 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusi... |
OMIM:240500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibo... |
OMIM:607594 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, T lymphocytopenia, Recurrent ba... |
ORPHA:169079 |
Melioidosis |
|
Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Abnormality of the spleen, He... |
ORPHA:31202 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Spleno... |
ORPHA:379 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased... |
OMIM:613496 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia |
ORPHA:67 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... |
OMIM:243700 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Papillon-Lefèvre Syndrome |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Liver abscess, Recurrent respiratory... |
ORPHA:678 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu... |
ORPHA:98813 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:608049 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Listeriosis |
|
Brain abscess, Unusual skin infection, Liver abscess, Abscess, Jaundice, Peritonitis, Abnormal ce... |
ORPHA:533 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:147060 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho... |
ORPHA:331206 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... |
OMIM:308230 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... |
OMIM:116920 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Liver abscess, Recurrent abscess formation |
ORPHA:2038 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Indolent Systemic Mastocytosis |
|
Skin rash, Maculopapular exanthema, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Abnormal circulat... |
OMIM:618048 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... |
OMIM:618935 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, P... |
OMIM:618986 |
Nocardiosis |
|
Brain abscess, Liver abscess, Peritonitis, Severe infection, Unusual CNS infection, Sepsis, Menin... |
ORPHA:31204 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... |
OMIM:615468 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... |
OMIM:619802 |
Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circul... |
OMIM:300972 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Eosinophilia, Recurrent viral infections, Absence of CD8-pos... |
ORPHA:911 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, R... |
OMIM:603554 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent... |
OMIM:606367 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... |
OMIM:300291 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Eosinophilia, Recurrent ear infection... |
ORPHA:486 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, Sepsi... |
ORPHA:169090 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent bacterial infections |
OMIM:612840 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis |
OMIM:300635 |
Immunodeficiency 21 |
|
Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recurrent mycobacteri... |
OMIM:614172 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Recurrent bacterial infections,... |
OMIM:617475 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococcal infections, Sev... |
OMIM:615816 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... |
OMIM:301078 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Lymphopenia, Eosinophi... |
OMIM:102700 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... |
OMIM:214500 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Incr... |
ORPHA:167 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:444002 |
Cystic Echinococcosis |
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Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Invasive parasitic i... |
ORPHA:400 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Childhood Absence Epilepsy |
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Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, EEG with... |
ORPHA:64280 |
Complement Factor I Deficiency |
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Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Lymphoproliferative Syndrome 2 |
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Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... |
OMIM:615122 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Immunodeficiency 10 |
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Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... |
ORPHA:221139 |
Autoinflammatory-Pancytopenia Syndrome |
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Pancytopenia, Granuloma, Hemophagocytosis, Hepatosplenomegaly |
OMIM:619858 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Hsd10 Disease |
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Abnormal social behavior, Dysphagia |
ORPHA:391417 |
Postinfectious Vasculitis |
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Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... |
ORPHA:48435 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections, Neutropenia |
OMIM:603585 |
Lysinuric Protein Intolerance |
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Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... |
ORPHA:171 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, El... |
OMIM:619573 |
Whim Syndrome |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Mirage Syndrome |
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Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Sepsis, Leukopenia, Recurrent bac... |
OMIM:617053 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Sea-Blue Histiocytosis |
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Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Mannosidosis, Alpha B, Lysosomal |
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Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... |
OMIM:248500 |
Griscelli Syndrome Type 2 |
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Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Sickle Cell Disease |
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Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocytosis, Recurrent bacterial infec... |
OMIM:603903 |
Hermansky-Pudlak Syndrome 2 |
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Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Re... |
OMIM:608233 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Neonatal sepsis, Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infectio... |
OMIM:612541 |
Vici Syndrome |
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Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... |
OMIM:242840 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Hypocomplementemic Urticarial Vasculitis |
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Splenomegaly, Hepatomegaly, Meningitis, Recurrent bacterial infections |
ORPHA:36412 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Elevated circul... |
ORPHA:542323 |
Idiopathic Bronchiectasis |
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Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Abnormal macrophage morphology |
ORPHA:353 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Niemann-Pick Disease, Type A |
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Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia |
OMIM:257200 |
Shwachman-Diamond Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Transient neutropenia, Chron... |
ORPHA:811 |
Familial Hemophagocytic Lymphohistiocytosis |
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Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Anemia,... |
ORPHA:540 |
Acrokeratoelastoidosis Of Costa |
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Granulomatosis |
ORPHA:38 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Macrophage Activation Syndrome |
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Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
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Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepatocellular adenoma, ... |
ORPHA:79259 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Pancreatitis, Leu... |
ORPHA:544482 |
Cystic Fibrosis |
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Elevated hepatic transaminase, Recurrent Aspergillus infections, Recurrent respiratory infections... |
ORPHA:586 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior, Agitation, Disinhibition |
ORPHA:1020 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Chromomycosis |
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Recurrent bacterial infections |
ORPHA:182 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Aregenerative Anemia |
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Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-positive T cells,... |
ORPHA:101096 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Emotional lability, Abnormal social behavior |
ORPHA:309263 |
Say-Barber-Miller Syndrome |
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Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections |
ORPHA:2176 |
Niemann-Pick Disease, Type C1 |
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Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:257220 |
48,Xxxy Syndrome |
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Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Emotional lability, Abnormal social behavior, Depression |
ORPHA:309271 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Pneumonia |
ORPHA:2135 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Multifocal epileptiform discharges, EEG abnormality, Irritability, Abnormal social behavior, Abno... |
ORPHA:1675 |
Niemann-Pick Disease, Type C2 |
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Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:607625 |
Gm1-Gangliosidosis, Type Ii |
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Splenomegaly, Sea-blue histiocytosis |
OMIM:230600 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227990 |
Fg Syndrome Type 1 |
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Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:93932 |
Prader-Willi Syndrome Due To Translocation |
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Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227982 |
Graft Versus Host Disease |
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Hemophagocytosis, Hepatosplenomegaly |
ORPHA:39812 |
H Syndrome |
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Hepatosplenomegaly, Histiocytosis, Microcytic anemia |
ORPHA:168569 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections |
ORPHA:99104 |
Lysinuric Protein Intolerance |
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Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:222700 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Mend Syndrome |
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Hyperactivity, Abnormal social behavior, Abnormal auditory evoked potentials, Aggressive behavior |
ORPHA:401973 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections |
ORPHA:99103 |
Granulomatosis With Polyangiitis |
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Granulomatosis |
OMIM:608710 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, Attention defici... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, Attention defici... |
ORPHA:363958 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Splenomegaly, Histiocytosis, Hepatosplenomegaly |
OMIM:602782 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Niemann-Pick Disease Type C |
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Aggressive behavior, Depression, Disinhibition, Low frustration tolerance, Compulsive behaviors, ... |
ORPHA:646 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Pauci-Immune Glomerulonephritis |
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Granulomatosis |
ORPHA:93126 |
Granulomatosis With Polyangiitis |
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Granulomatosis |
ORPHA:900 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal social behavior, Aggressive behavior |
ORPHA:314647 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess |
ORPHA:642 |
Williams Syndrome |
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Depression, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behav... |
ORPHA:904 |
Pmm2-Cdg |
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Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, Aspiration pneumonia, Impaired ... |
ORPHA:79318 |