Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Immunodeficiency 18 |
|
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 24 |
|
Recurrent viral infections, Severe varicella zoster infection, Decreased circulating IgG2 level, ... |
OMIM:615897 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... |
OMIM:618982 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... |
OMIM:308240 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... |
OMIM:613500 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Infectious encephalitis, Arthritis, Weight loss |
ORPHA:42642 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Hepatitis, Impair... |
OMIM:308230 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Failure to thrive, Complete or near-complet... |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Skin rash, Pneumonia, Recurrent bacterial meningitis, Reduced na... |
OMIM:300400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin... |
OMIM:601457 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Agammaglobulinemia, X-Linked |
|
Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Meningitis, I... |
OMIM:300755 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... |
OMIM:605258 |
Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Persistent EBV ... |
OMIM:615122 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... |
OMIM:240500 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
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 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M... |
ORPHA:448237 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c... |
OMIM:608106 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Eczema, Recurrent infections |
OMIM:614493 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis... |
OMIM:212050 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent up... |
ORPHA:277 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... |
ORPHA:60033 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial inf... |
OMIM:607594 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... |
OMIM:606843 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Unusual CNS infe... |
ORPHA:1163 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... |
ORPHA:572 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Sepsis, Decreased circulating antibody level, Weight... |
ORPHA:33355 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti... |
ORPHA:139402 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
Reticular Dysgenesis |
|
Lack of T cell function, Sepsis, Impaired T cell function |
OMIM:267500 |
Lyme Disease |
|
Arthritis, Meningitis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respirator... |
OMIM:600802 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Skin rash, Reduced natural killer cell activity, Meningitis, Increased circulating ferritin conce... |
OMIM:603553 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis |
ORPHA:83317 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Sepsis, Nephritis, Infectious encephalitis, Brai... |
ORPHA:2552 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Pneumonia, Myocarditis, ... |
ORPHA:781 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Hypoalbuminemia, Meningitis, Psoriasifor... |
ORPHA:37042 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Congenital Enterovirus Infection |
|
Skin rash, Meningitis, Myocarditis, Hepatitis, Sepsis, Hypoalbuminemia, Infectious encephalitis |
ORPHA:292 |
Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis, Sepsis, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Legionnaires Disease |
|
Pericarditis, Recurrent pharyngitis, Myocarditis, Hepatitis, Sepsis, Endocarditis, Bone marrow hy... |
ORPHA:549 |
New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
Typhoid |
|
Skin rash, Infectious encephalitis |
ORPHA:99745 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Meningitis, Increased circulating ferritin concentration, Hypoalbuminemia, Failure to thrive, Hyp... |
OMIM:267700 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Increased circulating IgE level,... |
OMIM:617241 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Meningitis, Severe infection, L... |
ORPHA:31204 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Whipple Disease |
|
Myositis, Pericarditis, Cachexia, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Immunodeficiency 64 With Lymphoproliferation |
|
Failure to thrive, Increased circulating IgA level, Bronchiectasis, Recurrent infections, Increas... |
OMIM:618534 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Skin rash, Recurrent viral infect... |
ORPHA:35078 |
Immunodeficiency 96 |
|
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... |
OMIM:619774 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Infectious encephalitis |
ORPHA:1194 |
Cerebral Visual Impairment |
|
Unusual CNS infection, Meningitis, Infectious encephalitis |
ORPHA:447788 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Infectious encephalitis |
ORPHA:3386 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Bullous Pemphigoid |
|
Weight loss, Eczema, Psoriasiform dermatitis, Recurrent infections |
ORPHA:703 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increased circulating... |
ORPHA:1304 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Weight loss, Aspiration pneumonia, Failure to thrive, Infectiou... |
ORPHA:354 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... |
OMIM:618131 |
Hartnup Disease |
|
Skin rash, Infectious encephalitis |
ORPHA:2116 |
Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act... |
OMIM:616050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... |
OMIM:242700 |
Listeriosis |
|
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Meningiti... |
ORPHA:533 |
Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Meningitis, Sepsis |
ORPHA:464370 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Synovitis, Weight l... |
ORPHA:77297 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Recurrent infections |
ORPHA:704 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... |
ORPHA:391487 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Impaired T cell function, Recurrent vir... |
OMIM:613179 |
Follicular Lymphoma |
|
Meningitis, Weight loss |
ORPHA:545 |
Rift Valley Fever |
|
Skin rash, Severe viral infection, Hepatitis, Uveitis, Increased circulating IgG level, Increased... |
ORPHA:319251 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... |
OMIM:619374 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Skin rash, Recurrent viral infections, Lymphadenitis, Decreased ... |
ORPHA:331206 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... |
ORPHA:47612 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Weight loss, Increased circulating IgG level, Increas... |
OMIM:209950 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... |
ORPHA:3392 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
Japanese Encephalitis |
|
Increased circulating IgM level, Meningitis, Infectious encephalitis, Increased circulating antib... |
ORPHA:79139 |
Zygomycosis |
|
Brain abscess, Fasciitis, Unusual skin infection, Sinusitis, Pericarditis, Gastritis, Pustule, In... |
ORPHA:73263 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:42 |
Poliomyelitis |
|
Meningitis, Infectious encephalitis, Myelitis |
ORPHA:2912 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Cachexia |
ORPHA:217346 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc... |
ORPHA:83597 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss |
ORPHA:100024 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Weight loss, Acute infectious pneumonia, Interstitial pneumonit... |
ORPHA:723 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Atopic dermatitis, W... |
ORPHA:171876 |
Cysticercosis |
|
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Primary Intestinal Lymphangiectasia |
|
Cryptococcal meningitis, Weight loss, Decreased circulating antibody level, Decreased circulating... |
ORPHA:90362 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Sepsis, Recurrent meningitis, Septic arthritis |
OMIM:612260 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia, Recurrent infections |
ORPHA:206436 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis |
ORPHA:847 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis |
ORPHA:761 |
Alexander Disease |
|
Failure to thrive, Infectious encephalitis |
ORPHA:58 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
Incontinentia Pigmenti |
|
Keratitis, Infectious encephalitis, Uveitis, Skin rash |
ORPHA:464 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Sepsis, Weight loss |
ORPHA:388 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pharyng... |
ORPHA:829 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sepsis, Weight loss, Recurrent infections |
ORPHA:764 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Infectious encephalitis |
ORPHA:68 |
Cinca Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Meningitis |
OMIM:607115 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... |
ORPHA:324625 |
Mast Cell Sarcoma |
|
Mastocytosis, Weight loss |
ORPHA:66661 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Roifman Syndrome |
|
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Recurrent otitis media, Decrea... |
ORPHA:353298 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Ménétrier Disease |
|
Helicobacter pylori infection, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic ... |
ORPHA:2494 |
Angiostrongyliasis |
|
Increased circulating IgA level, Unusual CNS infection, Increased circulating specific IgE antibo... |
ORPHA:74 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... |
ORPHA:411703 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Osteomyelitis, Eczema, Decreased lymphocyte proliferation in re... |
OMIM:614162 |
Leishmaniasis |
|
Rhinitis, Increased circulating antibody level, Hypoalbuminemia, Weight loss |
ORPHA:507 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Hypoalbuminemia, Weight loss |
ORPHA:103910 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Impaired T cell function, Decreased specific ... |
OMIM:614576 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Hypoalbuminemia, Cachexia |
OMIM:610965 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Recurrent ... |
OMIM:617718 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Cryptococcal meningitis, Persistent human papillomavirus infection |
OMIM:618309 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Eczema, Increased circulating IgA level, Reduced natural killer cell activity, ... |
OMIM:301000 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Recurrent respiratory infections, Bone marrow hypocellularity, Weight loss |
ORPHA:3226 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Weight loss |
ORPHA:3165 |
Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recu... |
ORPHA:420741 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss |
ORPHA:1164 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... |
OMIM:617321 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Atopic dermatitis, Elevated circulating C-reactive protein conce... |
ORPHA:2902 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Weight loss |
ORPHA:26790 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... |
OMIM:301074 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Weight loss |
ORPHA:312 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Infec... |
ORPHA:293987 |
Kaposi Sarcoma |
|
Recurrent herpes, Skin rash, Weight loss |
ORPHA:33276 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Failure to thrive, Weight loss |
ORPHA:1842 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:98897 |
Classic Hodgkin Lymphoma |
|
Skin rash, Bone marrow hypocellularity, Weight loss |
ORPHA:391 |
Thymoma |
|
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... |
ORPHA:99867 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Weig... |
ORPHA:2070 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,... |
ORPHA:90003 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Colitis, Hypoalbuminemia, Recurrent absces... |
OMIM:619381 |
Melioidosis |
|
Brain abscess, Unusual skin infection, Foot osteomyelitis, Pneumonia, Osteoarthritis, Sepsis, Hep... |
ORPHA:31202 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Cachexia |
ORPHA:647 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Eczema, Sepsis, Inflammatory abnormality of the eye,... |
ORPHA:379 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections, Obesity |
ORPHA:66628 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections, Obesity |
ORPHA:179494 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Recurrent bacterial infect... |
ORPHA:36412 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... |
ORPHA:90051 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Impaired T cell function, Minimal change glomerulonephritis, Abnormal ... |
ORPHA:1830 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Weight loss |
ORPHA:3287 |
Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Decreased body weight |
ORPHA:800 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Retrobulbar optic neuritis, Meningitis, Uv... |
ORPHA:1451 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Cystic Echinococcosis |
|
Invasive parasitic infection, Unusual infection, Weight loss, Membranous nephropathy, Increased c... |
ORPHA:400 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Severe viral infection, Bronchiectasis, Weight loss, Keratoconjunctivitis sicc... |
ORPHA:79128 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Keratoconjunctivitis, Eczema, Weight loss |
ORPHA:79242 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Benign Recurrent Intrahepatic Cholestasis |
|
Pancreatitis, Weight loss |
ORPHA:65682 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss... |
ORPHA:29207 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Wilson Disease |
|
Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis, Failure to thrive |
ORPHA:905 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Enterocolitis, Sepsis, Weight loss |
ORPHA:95427 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Small for gestational age, Se... |
ORPHA:99843 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... |
OMIM:242840 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss |
ORPHA:133 |
Coccidioidomycosis |
|
Pericarditis, Coccidioidal meningitis, Osteomyelitis, Pneumonia, Skin rash, Erythema nodosum, Inv... |
ORPHA:228123 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Stickler Syndrome |
|
Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende... |
ORPHA:828 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, D... |
OMIM:212750 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Acute pancreatitis, Pericarditis, Chilblains, Weight loss, Hy... |
OMIM:619487 |
Gorham-Stout Disease |
|
Osteomyelitis, Meningitis |
ORPHA:73 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Erysi... |
OMIM:249100 |
Refractory Celiac Disease |
|
Hypoproteinemia, Inflammatory abnormality of the skin, Hypoalbuminemia, Weight loss |
ORPHA:398063 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Inflammatory abnormality of the eye, Weight loss |
ORPHA:33577 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Meningitis, Unusual CNS infection, Increas... |
ORPHA:297 |
Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Maculopapular exanthema,... |
ORPHA:98850 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... |
ORPHA:809 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Weight loss |
ORPHA:216866 |
Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Allergic rhinitis, Impaired T cell function, Recurrent viral infection... |
OMIM:176690 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis, Weight loss |
ORPHA:188 |
Familial Glucocorticoid Deficiency |
|
Weight loss, Recurrent urinary tract infections, Failure to thrive, Recurrent infections |
ORPHA:361 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA level, Osteoarthritis... |
ORPHA:2298 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Cockayne Syndrome |
|
Keratoconjunctivitis sicca, Malar rash, Cachexia |
ORPHA:191 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Giant Cell Arteritis |
|
Pericarditis, Recurrent pharyngitis, Weight loss, Arthritis, Meningitis |
ORPHA:397 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Weigh... |
ORPHA:183 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... |
ORPHA:900 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Polymyositis |
|
Arthritis, Pericarditis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:732 |
Marfan Syndrome |
|
Arthralgia/arthritis, Slender build, Cachexia |
ORPHA:558 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis, Failure to thrive, Weight loss |
ORPHA:92050 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Multiple Myeloma |
|
Increased circulating IgA level, Decreased circulating antibody level, Weight loss, Increased cir... |
ORPHA:29073 |
Acute Promyelocytic Leukemia |
|
Chronic infection, Stomatitis, Weight loss |
ORPHA:520 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased circulating ferritin concentratio... |
OMIM:615846 |
Malt Lymphoma |
|
Recurrent respiratory infections, Posterior uveitis, Weight loss |
ORPHA:52417 |
Orotic Aciduria |
|
Failure to thrive, Impaired T cell function |
OMIM:258900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Bacterial endocarditis |
ORPHA:2072 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pancreatitis, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concen... |
ORPHA:370348 |
Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis |
ORPHA:37 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Severe ... |
ORPHA:544482 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Hypoalbuminemia, Acute colitis, Weight loss |
ORPHA:67 |
Loeffler Endocarditis |
|
Pericarditis, Weight loss |
ORPHA:75566 |
Camurati-Engelmann Disease |
|
Slender build, Cachexia |
ORPHA:1328 |
Progressive Multifocal Leukoencephalopathy |
|
Meningitis |
ORPHA:217260 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Keratitis, Weight loss, Aspiration pneumonia, Failure to thrive |
ORPHA:1018 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... |
ORPHA:85408 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis,... |
OMIM:181000 |
Budd-Chiari Syndrome |
|
Peritonitis, Cholecystitis, Weight loss |
ORPHA:131 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Sepsis, Weight loss, Failure to thrive, Hashimoto thyroiditis |
ORPHA:199299 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
Trichinellosis |
|
Skin rash, Conjunctivitis, Increased circulating IgE level, Meningitis |
ORPHA:863 |
Proteus Syndrome |
|
Cachexia, Recurrent infections |
ORPHA:744 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration, Elevated c... |
ORPHA:93672 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Sepsis, Arthritis, Inflammation o... |
ORPHA:906 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Arthritis, Weight loss |
ORPHA:465508 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Al Amyloidosis |
|
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbumine... |
ORPHA:85443 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Hepatitis, Uveitis, Polyclonal elevation of IgM, Weight l... |
ORPHA:171 |
Solitary Fibrous Tumor |
|
Reduced C-peptide level, Weight loss |
ORPHA:2126 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Cheilitis, Arthritis, Con... |
ORPHA:2331 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Sepsis, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Angular cheilitis, Weight loss |
ORPHA:35858 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... |
ORPHA:342 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight ... |
ORPHA:79078 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Sepsis, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:537 |
Velocardiofacial Syndrome |
|
Impaired T cell function, Recurrent infections |
OMIM:192430 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Elevated circulating C... |
ORPHA:49041 |
Acute Adrenal Insufficiency |
|
Recurrent acute respiratory tract infection, Failure to thrive, Increased circulating renin level... |
ORPHA:95409 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Hypoalbuminemia, Cachexia |
ORPHA:75565 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Cholangitis, Weight loss |
ORPHA:284 |
Poems Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:2905 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Tubulointerstitial nephritis, Weight loss |
ORPHA:85450 |
Cryptococcosis |
|
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Sepsis, Prostatitis |
ORPHA:1546 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We... |
ORPHA:100085 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Weight loss |
ORPHA:97287 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Weight lo... |
ORPHA:50918 |
Malignant Atrophic Papulosis |
|
Peritonitis, Arteritis, Weight loss |
ORPHA:679 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Pituitary Dermoid And Epidermoid Cysts |
|
Meningitis |
ORPHA:91351 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Weight loss |
ORPHA:103918 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein co... |
ORPHA:91500 |
Caroli Disease |
|
Abnormal circulating alpha-fetoprotein concentration, Cholangitis, Weight loss |
ORPHA:53035 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:160 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Gallbladder Neuroendocrine Tumor |
|
Cholecystitis, Weight loss |
ORPHA:100086 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Sepsis, Enterocolitis, Endocarditis, Acu... |
ORPHA:707 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Weight loss |
ORPHA:20 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Weight loss |
ORPHA:98849 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Failure to thrive, Aspiration pneumonia, Weight loss |
ORPHA:2020 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Weight loss |
OMIM:613673 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Otitis media, Weight loss |
ORPHA:576 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Acute Transverse Myelitis |
|
Invasive parasitic infection, Severe viral infection, Disseminated nontuberculous mycobacterial i... |
ORPHA:139417 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Myocarditis, Weight loss, Arthritis |
ORPHA:221 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Weight loss |
ORPHA:309031 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Weight loss |
ORPHA:35687 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Leptospirosis |
|
Pericarditis, Skin rash, Hepatitis, Uveitis, Hyperproteinemia, Optic neuritis, Meningitis |
ORPHA:509 |
22Q11.2 Deletion Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Obesity, Arthritis, Chronic otitis media, ... |
ORPHA:567 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Mildly elevated creatine kinase, Weight loss |
ORPHA:79102 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Psoriasiform dermatitis |
ORPHA:2237 |
Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Recurrent pneumonia, Obesity, Recurrent in... |
OMIM:188400 |
Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
Addison Disease |
|
Failure to thrive, Increased circulating renin level, Hashimoto thyroiditis, Weight loss |
ORPHA:85138 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Bronchiectasis, Weight loss, Recurrent infections, Arthr... |
ORPHA:99921 |
Pulmonary Alveolar Microlithiasis |
|
Increased circulating surfactant protein level, Bronchiectasis, Weight loss |
ORPHA:60025 |
Hydranencephaly |
|
Meningitis |
ORPHA:2177 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Weight loss |
ORPHA:84 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Sacral Defect With Anterior Meningocele |
|
Meningitis |
OMIM:600145 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Glucagonoma |
|
Stomatitis, Skin rash, Weight loss |
ORPHA:97280 |
Parathyroid Carcinoma |
|
Pancreatitis, Weight loss |
ORPHA:143 |
Zollinger-Ellison Syndrome |
|
Esophagitis, Weight loss |
ORPHA:913 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
African Trypanosomiasis |
|
Pericarditis, Keratitis, Myocarditis, Weight loss, Optic neuritis, Conjunctivitis, Iritis, Myelitis |
ORPHA:3385 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss |
OMIM:219800 |
Sarcoidosis |
|
Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Weight loss, Tubulointerstiti... |
ORPHA:797 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Truncal obesity,... |
ORPHA:99889 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Acne, Weight loss |
ORPHA:90794 |
Choreoacanthocytosis |
|
Arthritis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:2388 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Osteoarthritis, Weight loss |
ORPHA:740 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
Goodpasture Syndrome |
|
Glomerulonephritis, Weight loss |
OMIM:233450 |