Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... |
OMIM:618944 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy |
OMIM:618987 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:300310 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulatin... |
OMIM:300400 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:613500 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:618459 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE... |
OMIM:619824 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:618969 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Failure to thrive, Decreased lymphocyte proliferation in response to mitogen,... |
OMIM:615592 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circ... |
ORPHA:98813 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... |
OMIM:617744 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... |
ORPHA:86816 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circu... |
OMIM:620282 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Decreased circulating total IgM, Decreased circulating IgE, Decreas... |
OMIM:619510 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Abnormal circula... |
OMIM:241600 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Immunodeficiency 48 |
|
Failure to thrive, Panhypogammaglobulinemia |
OMIM:269840 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Small for gestational age |
OMIM:300076 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive, Absent isohemagglutinin level |
OMIM:613501 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, Hypoalbuminem... |
ORPHA:90362 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... |
OMIM:617241 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Fail... |
OMIM:615758 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... |
OMIM:615513 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Decreased circulating antibody level, Decreased circulating total IgM, Reduced... |
ORPHA:331206 |
Galactokinase Deficiency |
|
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Complement... |
ORPHA:79237 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Abnormal natural killer cell ... |
OMIM:613101 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:619752 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Immunodeficiency 46 |
|
Failure to thrive, Decreased circulating antibody level |
OMIM:616740 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
Sneddon Syndrome |
|
Decreased circulating total IgM |
OMIM:182410 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased circulating antibod... |
OMIM:619802 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci... |
OMIM:275350 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Immunodeficiency 64 With Lymphoproliferation |
|
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Increased ci... |
OMIM:618534 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Panhypogammaglobulinemia, Failure to thrive secondary to recurrent infections |
OMIM:601457 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
Lambert Syndrome |
|
Failure to thrive in infancy, Decreased circulating antibody level |
ORPHA:1296 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Immunodeficiency 47 |
|
Decreased circulating total IgG, Decreased circulating copper concentration, Decreased circulatin... |
OMIM:300972 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... |
OMIM:618048 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small for gestational age, Decreased circulating total IgM, Hypo... |
OMIM:607143 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... |
OMIM:308240 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Decreased circulating antibod... |
OMIM:300635 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level, Hypoalbuminemia, Weight loss |
OMIM:209950 |
Immunodeficiency 52 |
|
Failure to thrive, Decreased circulating antibody level |
OMIM:617514 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Decreased circulating antibody level |
ORPHA:33355 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole... |
OMIM:616222 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... |
OMIM:308230 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci... |
OMIM:620040 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Dysgammaglobulinemia |
ORPHA:100025 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... |
ORPHA:90363 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:436159 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Failure to thrive, Decreased ci... |
OMIM:618108 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity |
ORPHA:254531 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... |
ORPHA:35078 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level |
OMIM:617006 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased circulating antibody level |
OMIM:619846 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive |
OMIM:619693 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia |
ORPHA:158014 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased specific antibody res... |
OMIM:614700 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Decreased circulating antibody level |
OMIM:618042 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Increased circulating IgE level, Decreased ... |
OMIM:102700 |
Activated Pi3K-Delta Syndrome |
|
Increased circulating IgM level, Failure to thrive, Decreased circulating antibody level |
ORPHA:397596 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased circulating total IgM, Decreased ci... |
OMIM:210900 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Hypocalcemic seizures, Decrease... |
OMIM:612301 |
Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss, Decreased circulating total Ig... |
ORPHA:420741 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity |
ORPHA:96184 |
Laron Syndrome |
|
Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Decreased circulating IgA level |
OMIM:215250 |
Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Obesity |
ORPHA:77296 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... |
OMIM:300755 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level |
OMIM:301045 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... |
ORPHA:221139 |
Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, Increase... |
ORPHA:449400 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level |
ORPHA:169079 |
Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Failure to thrive in infancy, Elevated circulating C-reactive pr... |
OMIM:617099 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... |
ORPHA:169160 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Failure to thrive, Panhypogammaglobulinemia |
ORPHA:251009 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Decreased circulating IgA level |
DECIPHER:45 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:618116 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... |
OMIM:613011 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Impaired... |
OMIM:210250 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating amyloid A, Elevated circulating C-reactive protein concentration, Decreased ... |
OMIM:619750 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased circulating antibody level, Abnormality of humoral immunity, D... |
ORPHA:572 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Obesity, Decreased circulating total IgM, Decreased circulat... |
ORPHA:369837 |
Ataxia-Telangiectasia |
|
Failure to thrive, Decreased circulating antibody level |
ORPHA:100 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
ORPHA:412 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive, Panhypogammaglobulinemia, Decreased circulating antibody l... |
OMIM:601495 |
Bloom Syndrome |
|
Small for gestational age, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:125 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, De... |
ORPHA:29073 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hyperhomocystinemia, Decreased circulating antibody level |
OMIM:617780 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Failure to thrive |
OMIM:618495 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity |
ORPHA:819 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level |
OMIM:616576 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... |
ORPHA:540 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level |
OMIM:242860 |
Selective Igm Deficiency |
|
Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... |
ORPHA:331235 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Reduced natural killer cell activity, Abse... |
OMIM:615559 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ... |
OMIM:600802 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Failure to thrive, Elevated circulating C-reactive protein conce... |
OMIM:617388 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... |
ORPHA:508533 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia |
OMIM:209920 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Immunodeficiency 12 |
|
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... |
OMIM:615468 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Immunodeficiency 56 |
|
Failure to thrive, Panhypogammaglobulinemia |
OMIM:615207 |
Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... |
ORPHA:3261 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Failure to thrive, Hypocalcemia, Weight loss |
ORPHA:47 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Elevated circulating C-reactive protein concentration, Weight lo... |
OMIM:619381 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymp... |
ORPHA:276 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:264580 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:619767 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... |
OMIM:619652 |
Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Bone marrow hypocellularity, Decreased circulating anti... |
ORPHA:381 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:616005 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia, Decreased circulating antibody level |
OMIM:226300 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Decreased circulating antibody level |
ORPHA:90045 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Obesity |
ORPHA:69663 |
Wiskott-Aldrich Syndrome |
|
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level |
OMIM:615122 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Failure to thrive |
ORPHA:33110 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... |
ORPHA:90041 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Alg12-Cdg |
|
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
ORPHA:79324 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620005 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Obesity, Decreased circulating antibody level |
OMIM:605309 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Failure to thrive, Abnormal circulating thyroglobulin level, Neonatal hyper... |
ORPHA:90674 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Decreased specific anti-polysaccharide antibody level, Impaired T cell functio... |
OMIM:614576 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... |
OMIM:618183 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... |
ORPHA:275761 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... |
OMIM:606367 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level |
OMIM:618165 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Thymoma |
|
Weight loss, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circula... |
ORPHA:99867 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Increased circulating IgE level, Panhypogammaglobulinemia |
OMIM:602450 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Immunodeficiency 23 |
|
Increased circulating IgG level, Failure to thrive, Increased circulating IgE level, Increased ci... |
OMIM:615816 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decr... |
OMIM:613327 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Decreased circulating IgA level |
OMIM:616638 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive, Decreased circulating IgA level |
OMIM:212750 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Failure to thrive, Elevated circulating alpha-fetoprotein concen... |
OMIM:208900 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Increased circulating IgM level, ... |
ORPHA:186 |
Zika Virus Disease |
|
Increased circulating IgM level |
ORPHA:448237 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Decreased circulating IgG l... |
OMIM:212065 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Decreased circulating IgA level |
ORPHA:457485 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri... |
OMIM:618131 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... |
OMIM:618986 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormality of body weight, Decreased circulating compl... |
ORPHA:2298 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Schimke Immunoosseous Dysplasia |
|
Abnormal immunoglobulin level, Small for gestational age, Decreased circulating antibody level |
OMIM:242900 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Failure to thrive |
ORPHA:83617 |
Icf Syndrome |
|
Decreased circulating antibody level |
ORPHA:2268 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level |
OMIM:615952 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:79329 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Decreased circulating antibody level, Increased serum iron, Hypoalbumi... |
OMIM:222470 |
Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... |
OMIM:617062 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t... |
ORPHA:79259 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Decreased circulating antibody ... |
ORPHA:293978 |
Mucopolysaccharidosis-Plus Syndrome |
|
Increased circulating IgM level, Hypoalbuminemia, Bone marrow hypocellularity |
OMIM:617303 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Hypoalbuminemia, Decreased circulating antibody level |
ORPHA:79396 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:243150 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... |
ORPHA:79124 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level, Hyperbilirubinemia |
ORPHA:562639 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Decreased circulating IgA level |
OMIM:613385 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterole... |
ORPHA:534 |
Vici Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Elevated circulating creatine kinase concentr... |
OMIM:242840 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Decreased circulating antibody level |
ORPHA:1572 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity |
OMIM:301078 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level |
OMIM:617425 |
Good Syndrome |
|
Decreased circulating antibody level |
ORPHA:169105 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Small for gestational age |
OMIM:601675 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
Mannosidosis, Alpha B, Lysosomal |
|
Decreased circulating antibody level |
OMIM:248500 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Decreased circulating antibody level |
OMIM:616084 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Increased circulating IgM level, Decreased circulating IgG level, Hypoalbuminemia, Bone marrow hy... |
ORPHA:505248 |
Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
Monosomy 18Q |
|
Failure to thrive, Slender build, Decreased circulating IgA level |
ORPHA:1600 |
Japanese Encephalitis |
|
Hyponatremia, Increased circulating IgM level, Increased circulating antibody level |
ORPHA:79139 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level |
OMIM:158350 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Small for gestational age |
OMIM:606721 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Hypocalcemia, Decreased circulating antibody level |
ORPHA:175 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
Brucellosis |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Weight loss, In... |
ORPHA:1304 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Weight loss, Increased circulating IgG4 level, Increased circula... |
ORPHA:79078 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Hypocholesterolemia, Decreased circulating IgA level |
OMIM:223370 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
ORPHA:935 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Decreased circulating IgG level, Unconjugated hyperbilirubinemia |
OMIM:618278 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia |
OMIM:307200 |
Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Elevated circulating C-reactive protein concentration, Decreased cir... |
OMIM:615688 |
Syndromic Diarrhea |
|
Small for gestational age, Panhypogammaglobulinemia, Abnormality of iron homeostasis |
ORPHA:84064 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449395 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Primary Sclerosing Cholangitis |
|
Weight loss, Hypoalbuminemia, Polyclonal elevation of IgM |
ORPHA:171 |
Hennekam Syndrome |
|
Hypocalcemia, Decreased circulating antibody level |
ORPHA:2136 |
Leukocyte Adhesion Deficiency Type Ii |
|
Failure to thrive, Small for gestational age, Abnormal isohemagglutinin level |
ORPHA:99843 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Trichothiodystrophy |
|
Panhypogammaglobulinemia |
ORPHA:33364 |
Whim Syndrome |
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Decreased circulating antibody level |
ORPHA:51636 |
Autoimmune Polyendocrinopathy Type 4 |
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Decreased circulating antibody level |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Decreased circulating antibody level |
ORPHA:227982 |
Primary Sjögren Syndrome |
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Decreased circulating antibody level, Increased circulating antibody level, Decreased circulating... |
ORPHA:289390 |
Coccidioidomycosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
Nijmegen Breakage Syndrome |
|
Dysgammaglobulinemia |
OMIM:251260 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Decreased circulating IgG level |
OMIM:271510 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level, Elevated circulating creatine k... |
ORPHA:99827 |
Thrombocytopenia-Absent Radius Syndrome |
|
Decreased circulating antibody level |
OMIM:274000 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Sponastrime Dysplasia |
|
Small for gestational age, Decreased circulating antibody level |
ORPHA:93357 |
Infantile Cerebellar-Retinal Degeneration |
|
Failure to thrive, Decreased body weight |
OMIM:614559 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Failure to thrive in infancy, Secretory IgA deficiency |
ORPHA:500150 |
Viss Syndrome |
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Increased circulating IgG level, Failure to thrive, Increased circulating IgE level, Decreased ci... |
OMIM:619472 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Failure to thrive, Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Decreased body weight, Decreased circulating antibody level |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Decreased circulating antibody level |
ORPHA:261552 |
Optic Atrophy 9 |
|
|
OMIM:616289 |