| Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
| Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
| Intellectual Developmental Disorder, X-Linked 88 |
|
Seizure |
OMIM:300852 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| 15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
| Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
| Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ab... |
OMIM:615214 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... |
OMIM:616098 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count, BCGitis, Recurrent otitis media, Recurrent viral upper respira... |
OMIM:615707 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Molluscum c... |
OMIM:618982 |
| Hepatitis Delta |
|
Hepatic failure, Hepatitis, Fever, Elevated circulating aspartate aminotransferase concentration,... |
ORPHA:402823 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Panhypogamm... |
OMIM:600802 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
| Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... |
ORPHA:35078 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic tinea infection, Abnormal natural killer cell count, Increased circulating IgE level, Hyp... |
OMIM:212050 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... |
OMIM:615999 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Agammaglobulinemia, Monocytosis, Recurrent infections, Decreas... |
OMIM:615592 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased circulating IgG level... |
OMIM:312863 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Fever, Recurrent... |
OMIM:614699 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Focal-onset seizure, Seizure |
OMIM:600513 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Central diabetes insipidus, Gliosis, Decreased circulating osteocalcin level |
OMIM:125700 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... |
OMIM:301082 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
| Wolman Disease |
|
Reduced lysosomal acid lipase activity, Vomiting, Fever, Acute hepatic failure, Splenomegaly, Abd... |
OMIM:620151 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... |
OMIM:614172 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Pancytopenia, He... |
OMIM:619924 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... |
OMIM:300988 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ... |
OMIM:615401 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
| Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... |
OMIM:619707 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... |
OMIM:618108 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decreased circul... |
OMIM:300400 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... |
OMIM:609529 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal ... |
ORPHA:98813 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent infection... |
OMIM:617827 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Conjunctivitis, Enteroviral d... |
OMIM:307200 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent infections, Recurrent respiratory infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
| Immunodeficiency 44 |
|
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... |
OMIM:616636 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I... |
OMIM:607676 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... |
OMIM:616873 |
| Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:607594 |
| Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... |
OMIM:613953 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... |
OMIM:616911 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... |
OMIM:619824 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... |
OMIM:243700 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent fever, Lymphopenia, Recurr... |
OMIM:619773 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| Gilbert Syndrome |
|
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration |
OMIM:143500 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte ... |
ORPHA:169160 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ... |
OMIM:601457 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA lev... |
OMIM:619281 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:615122 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... |
OMIM:278000 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent... |
OMIM:300755 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu... |
OMIM:615617 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... |
OMIM:231100 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... |
OMIM:616941 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent enteroviral infections, Lymphopenia, Hepatosplenomegaly, Ab... |
ORPHA:331206 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat... |
OMIM:618944 |
| Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Immunodeficiency 46 |
|
Sepsis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Meningitis, Neutropeni... |
OMIM:616740 |
| C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
| Babesiosis |
|
Hepatic failure, Fever, Leukopenia, Nausea and vomiting, Splenomegaly, Thrombocytopenia, Anorexia... |
ORPHA:108 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... |
OMIM:300636 |
| Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent fever, Recurrent urinary ... |
OMIM:612783 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr... |
OMIM:614069 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... |
OMIM:613812 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Meningitis, Herpes simplex encephalitis |
OMIM:617900 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Fever, Acut... |
ORPHA:131 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Fever, Pancytopenia, Hepatic steatosis, Hepatomegaly |
OMIM:617872 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Reduced nat... |
OMIM:619752 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Wolman Disease |
|
Hepatic failure, Fever, Malnutrition, Nausea and vomiting, Splenomegaly, Hepatomegaly, Abdominal ... |
ORPHA:75233 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... |
OMIM:608184 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Decreased serum creatinine,... |
OMIM:617744 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
ORPHA:169154 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit... |
OMIM:619220 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Fever, BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abno... |
OMIM:226990 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating IgG level, Fever, Pancytopenia, Dec... |
OMIM:618394 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... |
OMIM:308230 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... |
ORPHA:275 |
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma |
OMIM:615878 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Methicillin-resistant ... |
OMIM:618282 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly, Fever |
ORPHA:466794 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Meningitis, Herpes simplex encephalitis |
OMIM:613002 |
| Pfapa Syndrome |
|
Recurrent pharyngitis, Splenomegaly, Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... |
OMIM:616829 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
| Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... |
OMIM:615207 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Immunodeficiency 92 |
|
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... |
OMIM:619652 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... |
OMIM:615577 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... |
OMIM:615697 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ... |
OMIM:613489 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Dysphagia |
ORPHA:2724 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Recurrent aphthous stomatitis, Herpes simplex encephalitis |
OMIM:614850 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... |
ORPHA:169079 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, BCGitis, Recurrent fever, Heat intolerance, Lymphopenia, Decreas... |
OMIM:612782 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Abnormality of the endocrine system, Recurrent viral infections, Chronic mucocu... |
OMIM:114580 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pain |
ORPHA:33402 |
| Combined Oxidative Phosphorylation Deficiency 46 |
|
Decreased liver function |
OMIM:618952 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre... |
OMIM:619644 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... |
OMIM:300853 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... |
OMIM:193670 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Fever, Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bacteria... |
OMIM:607624 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Maleylacetoacetate Isomerase Deficiency |
|
Decreased liver function |
OMIM:617596 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
| Cholangiocarcinoma |
|
Biliary tract neoplasm, Fever, Acholic stools, Abdominal pain, Anorexia, Jaundice |
ORPHA:70567 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Recurrent viral i... |
OMIM:606367 |
| Pgm3-Cdg |
|
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ... |
ORPHA:443811 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis |
OMIM:618309 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Increased circulating lactate dehydrogenase c... |
ORPHA:158057 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Sepsis, Hepatitis, Leukopenia, Leukocytosis, Skin rash, Abnormal macrophage morp... |
ORPHA:292 |
| Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Myelitis, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Infectious ence... |
ORPHA:454836 |
| Galactose Mutarotase Deficiency |
|
Cholestasis, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Decreased liver... |
ORPHA:570422 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Recurrent fever, El... |
OMIM:620632 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... |
OMIM:619313 |
| Rasmussen Subacute Encephalitis |
|
Memory impairment, Emotional lability, Irritability, Attention deficit hyperactivity disorder, Co... |
ORPHA:1929 |
| Peroxisome Biogenesis Disorder 7B |
|
Decreased liver function |
OMIM:614873 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Pigmentary retinopathy, Diarrhea, Elevated circulating hepatic transaminas... |
ORPHA:71212 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Feeding difficulties in infancy, ... |
OMIM:231530 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni... |
OMIM:616100 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c... |
ORPHA:540 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Aspergillosis |
|
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive... |
ORPHA:1163 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... |
OMIM:610163 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... |
OMIM:618459 |
| Zika Virus Disease |
|
Myelitis, Skin rash, Infectious encephalitis, Meningitis, Arthritis, Thrombocytopenia, Conjunctiv... |
ORPHA:448237 |
| Aggressive Systemic Mastocytosis |
|
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Elevated circulating alkaline phosphat... |
ORPHA:98850 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... |
OMIM:615206 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:615758 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... |
ORPHA:60 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Depression, Decreased circulating IgA level |
DECIPHER:45 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cirrhosis |
ORPHA:79278 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Type I dia... |
ORPHA:436159 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Bacterial Toxic-Shock Syndrome |
|
Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peri... |
ORPHA:36234 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormality of humoral immunit... |
ORPHA:277 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent otitis media, Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropenia, Autoimmun... |
OMIM:614700 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Congenital contracture, Gliosis, Hypoplasia of the brainstem |
OMIM:225753 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... |
ORPHA:398124 |
| Caroli Syndrome |
|
Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati... |
ORPHA:480520 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... |
OMIM:615438 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Fever, Recurrent fever, Increased... |
OMIM:613101 |
| Complement Component 4B Deficiency |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin... |
OMIM:614379 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Decreased liver function, Elev... |
OMIM:616974 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia |
OMIM:266265 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Recurrent fever, Increased circulating IgE level, Lymphopenia, Aplasi... |
OMIM:102700 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Hepatic periporta... |
ORPHA:139507 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Chilblains, Irritability, Loss of ambulation, Increased circulating Interferon-alph... |
OMIM:615010 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease... |
OMIM:615767 |
| Macrophage Activation Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased... |
ORPHA:158061 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Feeding difficulties in infancy, Decreased liver function |
OMIM:614870 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... |
OMIM:613470 |
| Caffey Disease |
|
Fever, Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating ... |
ORPHA:1310 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Fever, Abnormal circulating I... |
OMIM:618048 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Generalized bone demineralization, Abnormal T cell morphology |
OMIM:215250 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Fever, Acute hepatic failure,... |
ORPHA:139402 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Fever, Osteolysis |
ORPHA:158014 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Recurrent respiratory infections, Recurrent viral infections, ... |
OMIM:609981 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Recurrent respiratory infections, Recurrent fever, Fever, Incr... |
OMIM:300635 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Arrhythmia, Hepatomegaly, Dysphagia, Abnormal heart morphology, Elevated circulat... |
ORPHA:26791 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningiti... |
ORPHA:90362 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... |
ORPHA:98848 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections, Sepsis |
OMIM:618847 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Fever, Elevated circulating aspartate aminotransferase concentration, Biliary tract abn... |
ORPHA:90003 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation |
OMIM:260570 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
| Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ... |
ORPHA:263501 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Fever, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelitis,... |
OMIM:209950 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Rheumatoid arthritis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recur... |
ORPHA:183675 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Decreased proportion of class-switched memory B c... |
OMIM:614878 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... |
OMIM:618528 |
| Reticular Dysgenesis |
|
Sepsis, Fever, Recurrent respiratory infections, Aplasia/Hypoplasia of the thymus, Leukopenia, An... |
ORPHA:33355 |
| Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy |
ORPHA:254857 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... |
ORPHA:567983 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Sple... |
OMIM:267700 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Abn... |
ORPHA:79239 |
| Gne Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Tibialis muscle weakn... |
ORPHA:602 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Cholestasis, Hepatomegaly, Fulminant hepatic failure, Feeding difficulties |
OMIM:609060 |
| Carcinoid Syndrome |
|
Lack of bowel sounds, Elevated circulating hepatic transaminase concentration, Protracted diarrhe... |
ORPHA:100093 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Obesity, Short attention span, Distal lower limb muscle ... |
ORPHA:171706 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Recurrent fever, Increased circulating ferritin concentration, I... |
OMIM:620603 |
| Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomega... |
OMIM:603553 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Elevated circulating hepatic transaminase concentration, Vomitin... |
OMIM:613070 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Recurrent viral infections, Increased circulating IgE level, Eosinophilia, Osteoporosis, Recurren... |
OMIM:620532 |
| Scrub Typhus |
|
Skin rash, Splenomegaly, Infectious encephalitis, Myocarditis, Meningitis, Anterior uveitis |
ORPHA:83317 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Type I diabetes mellitus, Panhypogammaglobulinemia, Progressive psychomotor deterioration, Pancyt... |
ORPHA:251009 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Bloody mucoid ... |
ORPHA:810 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Simplified gyral pattern |
OMIM:618328 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr... |
ORPHA:217390 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Reduced natural killer cell count, Recurrent viral infections, Decreased circulating ... |
ORPHA:221139 |
| Legionnaires Disease |
|
Sepsis, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Pancreatitis, Recurrent ph... |
ORPHA:549 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly |
ORPHA:664 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Obesity, Aggressive behavior, Hyperactivity, Intermittent diarrhea, ... |
OMIM:620270 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening... |
ORPHA:464370 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... |
OMIM:301074 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... |
OMIM:618495 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Immunodeficiency 48 |
|
Pneumocystis carinii pneumonia, Recurrent candida infections, Panhypogammaglobulinemia, Abnormal ... |
OMIM:269840 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, Pigmentary retinopathy, Failure to thrive, Hepatocellular necrosis, Hypertrichosis... |
OMIM:256000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... |
OMIM:620367 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... |
OMIM:601495 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... |
ORPHA:391487 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm... |
ORPHA:83471 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... |
OMIM:201475 |
| Galactosemia I |
|
Diarrhea, Vomiting, Decreased liver function, Elevated circulating aspartate aminotransferase con... |
OMIM:230400 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Recurrent otitis media, Increased circulating IgE level, Eosinophi... |
OMIM:618523 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Joi... |
OMIM:620210 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Vomiting, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... |
ORPHA:2394 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin... |
ORPHA:229717 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Feeding difficulties, Elevated circulating hepatic transaminase concentration, Decr... |
OMIM:246900 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s... |
OMIM:256810 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Decreased serum insulin-like growth factor 1, Delayed puberty, R... |
OMIM:618985 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... |
OMIM:618987 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... |
ORPHA:2585 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Disseminated molluscum contagiosum, Eosinophilia, Severe cytomeg... |
OMIM:617638 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
| Mu-Heavy Chain Disease |
|
Fever, Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteopo... |
ORPHA:100024 |
| Neutropenia, Chronic Familial |
|
Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... |
OMIM:275350 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... |
OMIM:261680 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplen... |
ORPHA:77259 |
| Adducted Thumbs Syndrome |
|
Craniosynostosis, Myelin-dependent gliosis, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Invasive fungal infection, Severe viral infection, Hemophagocytosis, Increased circulating ferrit... |
ORPHA:158048 |
| Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... |
OMIM:267500 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... |
OMIM:306400 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea... |
OMIM:612301 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent otitis media, Obesity, Retinal degeneration, Cognitive impairment, Rod-c... |
OMIM:615993 |
| Bardet-Biedl Syndrome 5 |
|
Cognitive impairment, Obesity, Macular dystrophy, Rod-cone dystrophy |
OMIM:615983 |
| Interstitial Lung And Liver Disease |
|
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Vomiting, Cholestasi... |
OMIM:615486 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Abnormality of the thyroid gland, Granuloma, Diabetes mellitus |
ORPHA:542592 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Typhoid |
|
Splenomegaly, Skin rash, Infectious encephalitis |
ORPHA:99745 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc... |
OMIM:233600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Recurrent fever, Fever, Splenomegaly, Skin rash, Hepatomegaly, ... |
OMIM:603552 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
ORPHA:367 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Hepatic failure |
ORPHA:3196 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly... |
ORPHA:397596 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Mpi-Cdg |
|
Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Decreased liver function, Abno... |
ORPHA:79319 |
| Lyme Disease |
|
Meningitis, Infectious encephalitis, Arthritis, Uveitis |
ORPHA:91546 |
| Immunodeficiency 104 |
|
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thriv... |
OMIM:608971 |
| Congenital Disorder Of Glycosylation, Type Ir |
|
Gastroesophageal reflux, Decreased liver function, Chronic constipation |
OMIM:614507 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... |
OMIM:613670 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Elevat... |
OMIM:617049 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Recurrent fever, Increased circulating ferriti... |
OMIM:613011 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Recurrent pneumonia, Decreased circulating IgA level, Hyperinsulinemia, Splenomegaly,... |
OMIM:613327 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Fever, ... |
OMIM:618935 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Hepatic failure, Diarrhea, Vomiting, Cirrhosis, Hepatomegaly, Steatorrhea |
OMIM:602579 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Recurrent ... |
ORPHA:167 |
| Listeriosis |
|
Arteritis, Abscess, Pustule, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infect... |
ORPHA:533 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Sinusitis, T lymph... |
OMIM:242860 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:615630 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Progressive neurologic deterioration, Decreased circulating antibody level |
ORPHA:85317 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration |
ORPHA:156 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Hepatic failure |
OMIM:618567 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Female hypogonadism, Defective B cell differentiation, Lymphopen... |
OMIM:208900 |
| Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Jaundice, Vomiting, Elevated circulating hepatic transaminase concentration |
OMIM:616483 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Depression, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red... |
ORPHA:254886 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Delayed puberty, Cognit... |
ORPHA:100 |
| Q Fever |
|
Pneumonia, Unusual infection, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Cholecysti... |
ORPHA:781 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Lack of bowel sounds, M... |
ORPHA:100075 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag... |
ORPHA:33110 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti... |
OMIM:617780 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Depression, Memory impairment, Imbalanced hemoglobin synthesis, ... |
ORPHA:330015 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Anorexia, Sid... |
OMIM:557000 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:79124 |
| Sandhoff Disease, Adult Form |
|
Mental deterioration, Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle... |
ORPHA:309169 |
| Hemimegalencephaly |
|
Pachygyria, Gray matter heterotopia, Gliosis, Polymicrogyria |
ORPHA:99802 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Decreased liver function, Abnormal circulating enzyme concentration or a... |
ORPHA:70472 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... |
OMIM:600785 |
| Lymphoma, Hodgkin, Classic |
