Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
Immunodeficiency 18 |
|
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity |
OMIM:614493 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... |
OMIM:615897 |
Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... |
OMIM:300400 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Ele... |
ORPHA:79230 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... |
OMIM:619374 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ... |
OMIM:613101 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Episodic hyperhidrosis, H... |
ORPHA:276575 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... |
OMIM:308240 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Episod... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... |
OMIM:300853 |
Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... |
OMIM:615559 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, ... |
ORPHA:465508 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... |
OMIM:240500 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Meningitis, Sepsis |
OMIM:618847 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Glucose intolerance, H... |
ORPHA:2298 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Osteomyelitis, Ataxia, Impulsivity, Irritability, Dementia, Memory impairment, Delirium |
OMIM:614116 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... |
ORPHA:79644 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Recurrent infections, Ovarian cyst, Hepatic fi... |
OMIM:246200 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... |
OMIM:607594 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperp... |
ORPHA:276608 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Primary amenorrhea, Hype... |
OMIM:619737 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp... |
ORPHA:681 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations, Type II diabetes mellitu... |
OMIM:619290 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... |
ORPHA:540 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... |
ORPHA:90065 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Chronic infection, In... |
ORPHA:139507 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Rec... |
ORPHA:829 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... |
ORPHA:277 |
Autoinflammation With Infantile Enterocolitis |
|
Meningitis, Reduced natural killer cell activity |
OMIM:616050 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub... |
OMIM:615710 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Hyponatremia, Shock, Peritonitis, Bradycardia, Abnormal glucose homeostasis, Hyp... |
ORPHA:391673 |
Immunodeficiency 96 |
|
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... |
OMIM:619774 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Susac Syndrome |
|
Somatic sensory dysfunction, Confusion, Gait ataxia, Abnormal emotion, Cognitive impairment |
ORPHA:838 |
Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Increased circulating NT-proBNP concentration, Tachycard... |
ORPHA:466677 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin resista... |
ORPHA:769 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... |
OMIM:308230 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia |
OMIM:175700 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Sepsis, Cholestasis, Hyperammonemia, Cardiomyopathy, Hypoalbum... |
ORPHA:292 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyper... |
ORPHA:263455 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Recurrent pharyngitis, Jaundice, Myocarditis, Hepatitis... |
ORPHA:549 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Diabetes mellitus, Sinusitis, Arthralgia/arthritis, Pneumon... |
ORPHA:449280 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Increase... |
OMIM:301000 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating... |
ORPHA:81 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Irregular menstruation |
OMIM:615986 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Gastrointestinal hemorrhage, Pericarditis, Myocardial infar... |
ORPHA:3452 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... |
ORPHA:83471 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly,... |
ORPHA:47612 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent upper respirato... |
OMIM:600802 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... |
OMIM:608233 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypophosphatem... |
ORPHA:2088 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Cong... |
ORPHA:206569 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, Hyperglycemia |
ORPHA:134 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... |
ORPHA:35078 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... |
OMIM:269880 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Recurrent urinary tract infections, Acute pancreatitis, Pericarditis, Chilblains, P... |
OMIM:619487 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Glycosuria, Hyperglycemia, Pancreatic ... |
ORPHA:99885 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hypera... |
ORPHA:3008 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... |
ORPHA:900 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
Q Fever |
|
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Pneumonia,... |
ORPHA:781 |
Immunodeficiency 22 |
|
Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Decreased circulating... |
OMIM:615758 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Pneumonia, Myocarditis, Peritonitis, Sepsis, Cholestasis, Abnormal bl... |
ORPHA:810 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Meningitis, Infectious encephalitis, Reduced natural killer cell activity |
OMIM:603553 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Hypokalemia, Hypergalacto... |
OMIM:227810 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Hyperhidrosis, Hypotension, Meningitis, I... |
ORPHA:83317 |
Microscopic Polyangiitis |
|
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Congestive heart failure, Myocarditis, Cardiomyopathy, Arr... |
ORPHA:3386 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of e... |
ORPHA:93111 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... |
OMIM:242700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Diabetes mellitus... |
ORPHA:544482 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... |
OMIM:613179 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia |
ORPHA:440713 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... |
OMIM:248370 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh... |
ORPHA:1304 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Endocarditis, Arthritis, ... |
ORPHA:3099 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... |
ORPHA:139402 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenome... |
ORPHA:809 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypo... |
OMIM:212065 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Premature ovarian insufficiency, Abno... |
ORPHA:79474 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating transferrin conc... |
ORPHA:90363 |
Tyrosinemia, Type I |
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Hypertyrosinemia, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Elevated circulating a... |
OMIM:276700 |
Listeriosis |
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Liver abscess, Sepsis, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis, Brain ... |
ORPHA:533 |
Marburg Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Uveitis, Hypoalbuminemia, Internal hemorrhage... |
ORPHA:99826 |
Leprechaunism |
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Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
Sudden Cardiac Failure, Infantile |
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Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Aceruloplasminemia |
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Decreased circulating ceruloplasmin concentration, Diabetes mellitus, Decreased circulating coppe... |
ORPHA:48818 |
Lujo Hemorrhagic Fever |
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Shock, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:319213 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w... |
ORPHA:64744 |
Simple Cryoglobulinemia |
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Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Macrophage Activation Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Coccidioidomycosis |
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Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
Igg4-Related Kidney Disease |
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Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubul... |
OMIM:124000 |
Zygomycosis |
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Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, Br... |
ORPHA:73263 |
Familial Chylomicronemia Syndrome |
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Acute pancreatitis, Pulmonary embolism, Perianal abscess, Depression, Dementia, Recurrent pancrea... |
ORPHA:444490 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Hepatomegaly, Pericarditis, Congestive heart failure |
ORPHA:163596 |
Juvenile Dermatomyositis |
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Calcinosis, Bundle branch block, Myositis, Gastrointestinal hemorrhage, Pericarditis, Elevated ci... |
ORPHA:93672 |
Roifman Syndrome |
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Recurrent otitis media, Decreased T cell activation, Recurrent pneumonia, Decreased circulating a... |
ORPHA:353298 |
Eosinophilic Granulomatosis With Polyangiitis |
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Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... |
ORPHA:183 |
Loeffler Endocarditis |
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Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Systemic Sclerosis |
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Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc... |
ORPHA:90291 |
Immunodeficiency 58 |
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Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... |
OMIM:618131 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyperlipidemia, Delayed puberty, G... |
OMIM:232220 |
Behçet Disease |
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Myositis, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephalitis, Acne, R... |
ORPHA:117 |
Kawasaki Disease |
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Pericarditis, Skin rash, Recurrent pharyngitis, Jaundice, Vasculitis, Congestive heart failure, H... |
ORPHA:2331 |
Amoebiasis Due To Entamoeba Histolytica |
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Liver abscess, Congestive heart failure, Hypoalbuminemia, Constrictive pericarditis, Acute colitis |
ORPHA:67 |
Nocardiosis |
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Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Meningitis, Seve... |
ORPHA:31204 |
Yao Syndrome |
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Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
Familial Mediterranean Fever |
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Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit... |
ORPHA:342 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Diabetes mellitus, Biliary atresia, Pulmonic stenosis, Glycosuria, Hyperglyce... |
OMIM:600001 |
Systemic Lupus Erythematosus |
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Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Colchicine Poisoning |
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Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
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Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Giant Cell Arteritis |
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Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Recurrent pharyngitis, Vasculi... |
ORPHA:397 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormality of the thyro... |
ORPHA:449432 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... |
OMIM:618213 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Decreased response to growth hormone stimulation test, Congestive heart failure, Aspiration pneum... |
ORPHA:444077 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Hepatitis, ... |
ORPHA:509 |
Relapsing Polychondritis |
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Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Large vessel ... |
ORPHA:728 |
Congenital Gerbode Defect |
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Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... |
ORPHA:99095 |
Pancreatitis, Hereditary |
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Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
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Arthritis, Constrictive pericarditis |
OMIM:208250 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... |
OMIM:614576 |
Malignant Atrophic Papulosis |
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Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Hereditary Orotic Aciduria |
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Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
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Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral regurgitation, Osteoar... |
ORPHA:2848 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Splenome... |
ORPHA:50918 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnor... |
ORPHA:353281 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Microvesicular hepatic steatosis, Hyperammonemia, Hypertension, Mitral regurgitatio... |
OMIM:220111 |
African Trypanosomiasis |
|
Conjunctivitis, Iritis, Hepatomegaly, Abnormal EKG, Abnormality of the endocrine system, Hepatosp... |
ORPHA:3385 |
Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, E... |
ORPHA:29207 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections |
ORPHA:66628 |
Sweet Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Hepatomegaly, Bundle branch block, Hypoglycemia, Supernumerary nipple, Cry... |
ORPHA:373 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections |
ORPHA:179494 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Mental deterioration, Herpes simplex encephalitis, Confusion |
OMIM:613002 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:267000 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal lateral ventricle morphology, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior... |
ORPHA:353277 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:221 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Recurrent infections, Impaired T cell function, Abnormal lymphocyte ... |
ORPHA:1830 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... |
OMIM:242840 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Hypertensio... |
OMIM:186580 |
Tetrasomy 9P |
|
Absent gallbladder, Recurrent urinary tract infections, Myositis, Pericarditis, Raynaud phenomeno... |
ORPHA:3310 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein con... |
ORPHA:116 |
Greenberg Dysplasia |
|
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly |
OMIM:215140 |
Aymé-Gripp Syndrome |
|
Cryptorchidism, Pericarditis, Breast hypoplasia |
ORPHA:1272 |
Velocardiofacial Syndrome |
|
Impaired T cell function, Recurrent infections |
OMIM:192430 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Pmm2-Cdg |
|
Pericarditis, Hypogonadotropic hypogonadism, Angina pectoris, Elevated circulating growth hormone... |
ORPHA:79318 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Recurrent in... |
OMIM:612132 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Cardiomyopathy, Pancreatic isle... |
OMIM:312870 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia |
OMIM:250220 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Ayme-Gripp Syndrome |
|
Pericarditis |
OMIM:601088 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Digeorge Syndrome |
|
Impaired T cell function, Recurrent pneumonia, Recurrent infections, Recurrent sinusitis, Recurre... |
OMIM:188400 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |