Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media |
OMIM:615615 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Decreased circulating IgA level, Increased ... |
OMIM:608106 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... |
OMIM:606843 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Decreased T cell activation, Eczema, Complete or near-complete a... |
OMIM:607271 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... |
OMIM:613500 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Chronic oral candidiasis, Reduced natural killer cell activity, ... |
OMIM:300400 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating IgA level, Agammaglob... |
OMIM:619707 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... |
OMIM:300310 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recur... |
OMIM:612692 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent sinusitis, Recurrent o... |
OMIM:607594 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:240500 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Immunodeficiency 11 |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Pneumo... |
OMIM:617638 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:616636 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... |
OMIM:618969 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... |
OMIM:617744 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ... |
ORPHA:3143 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... |
OMIM:618982 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Inflammatory abnormality of the skin, Recurrent otitis media, Recurrent ... |
ORPHA:277 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla... |
OMIM:619281 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:859 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... |
OMIM:617241 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Bronchiectasis, Increased circulating IgG level, Increased circulating Ig... |
OMIM:619220 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... |
OMIM:619774 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Decreas... |
OMIM:300853 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Hypoproteinemia, ... |
OMIM:241600 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, Decreased circulating antibody level, Complete or... |
OMIM:301081 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... |
OMIM:619924 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... |
ORPHA:860 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect, Hypert... |
OMIM:620135 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Decreased c... |
OMIM:618394 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... |
OMIM:619824 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Chronic oral candidiasis, Decreased T cell activation, Hepatitis, Scler... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... |
ORPHA:169160 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Decreased lymphocyte proliferation in response to mitogen, Defective T cell proli... |
OMIM:618534 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism |
OMIM:145260 |
Immunodeficiency 27A |
|
Pneumonia, Increased circulating IgM level, Salmonella osteomyelitis, Increased inflammatory resp... |
OMIM:209950 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bronchiectasi... |
OMIM:301082 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... |
OMIM:618282 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Bronchiectasis, Cutaneous abscess, Chronic mucocutaneous candidi... |
OMIM:619752 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... |
OMIM:614878 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation i... |
ORPHA:572 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:611926 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Ecze... |
OMIM:243700 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... |
OMIM:619510 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Impotence, Azoospermia, Congestive heart failure, Testicular atrophy, Hepatomegal... |
OMIM:235200 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Agammaglobulinemia, Decreased c... |
OMIM:619705 |
Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Decreased circulating IgA level,... |
OMIM:619652 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatitis, Cutane... |
OMIM:209920 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:615577 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency |
ORPHA:251076 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating total IgM, Chronic oral candidiasis, Lack of T cell function, Decreased lym... |
ORPHA:35078 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... |
OMIM:600802 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... |
ORPHA:555874 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:601859 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency |
OMIM:618238 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism, Increased circ... |
OMIM:177735 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Increased circulating IgA l... |
OMIM:617388 |
Non-Functioning Pituitary Adenoma |
|
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... |
ORPHA:91349 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism |
OMIM:614495 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism |
OMIM:264350 |
Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis, Decreased circulating... |
OMIM:618131 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic oral candidia... |
ORPHA:276 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physiology, Incr... |
OMIM:613179 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Pericarditi... |
OMIM:615758 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Weight loss, Elevated jugular venous pressure, Infertility, Congestive hea... |
ORPHA:465508 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... |
ORPHA:331206 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis |
OMIM:619386 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, P... |
OMIM:617872 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Adrenocortical hypoplasia |
OMIM:307030 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Pyoderma, Recurrent pneumonia, Reduced delayed hypersensitivity, Eczematoid derma... |
OMIM:242700 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Fulminant hepatitis, Increased circulating antibody level, Arthritis, ... |
ORPHA:2137 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Adrenal insufficien... |
OMIM:240300 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism |
OMIM:614496 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Central adrenal insufficiency |
OMIM:612079 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Nephritis, Increased circulating IgA level, Increased circulating IgM level, Reduced ... |
OMIM:603909 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:618114 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis, Allergic rhinit... |
ORPHA:183675 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
X-Linked Adrenoleukodystrophy |
|
Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating ACTH level |
ORPHA:43 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... |
OMIM:231550 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Pseudohypoaldosteronism |
OMIM:614492 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... |
ORPHA:308552 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ... |
ORPHA:268 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... |
OMIM:261740 |
Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification |
ORPHA:75233 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Elevated circulating creatine kinase concentration, Inflammation of the... |
OMIM:614576 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
Thymic Aplasia |
|
Hypocalcemic tetany, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to ... |
ORPHA:83471 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Eosinophilic infiltration of the esophagus, Decreased T cell activation, Pancol... |
OMIM:618213 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Decreased circulating aldosterone level, Decreased circulating dehydroepiandr... |
ORPHA:361 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
Flynn-Aird Syndrome |
|
Type II diabetes mellitus, Abnormality of the thyroid gland, Primary adrenal insufficiency |
ORPHA:2047 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypothyroidism, Hypogonadism |
OMIM:617575 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism |
ORPHA:300298 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:177200 |
Prolactinoma |
|
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... |
ORPHA:2965 |
X-Linked Lymphoproliferative Disease |
|
Hypertriglyceridemia, Decreased circulating total IgM, Fulminant hepatitis, Decreased circulating... |
ORPHA:2442 |
Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556030 |
Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency |
ORPHA:44 |
Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency |
OMIM:202370 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Decreased lympho... |
OMIM:619381 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... |
ORPHA:91350 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Increased circulating renin level, Decreased circulating aldosterone level |
ORPHA:427 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly |
OMIM:208000 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Decreased serum zinc |
OMIM:201100 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism |
ORPHA:231222 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Membranous n... |
ORPHA:449395 |
Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Decreased circulating aldosterone level |
OMIM:203400 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:218030 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency |
ORPHA:261476 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Eczema, Recurrent sinusiti... |
OMIM:301000 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hypothyroidism, Hyperthyroidism, Type II diabetes mellitus, Primary adrenal insufficienc... |
OMIM:269200 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Distal Monosomy 13Q |
|
Primary adrenal insufficiency |
ORPHA:1590 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency |
ORPHA:977 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Kearns-Sayre Syndrome |
|
Diabetes mellitus, Hypoparathyroidism, Primary adrenal insufficiency |
OMIM:530000 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... |
ORPHA:231226 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Increased ci... |
ORPHA:449432 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Adrenal calcification |
OMIM:278000 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Myasthenia Gravis |
|
Abnormality of the thymus, Hashimoto thyroiditis, Hyperthyroidism, Primary adrenal insufficiency |
ORPHA:589 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:398073 |
Addison Disease |
|
Thymoma, Decreased circulating aldosterone level, Increased circulating ACTH level, Decreased cir... |
ORPHA:85138 |
Adrenomyeloneuropathy |
|
Adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Primary ad... |
ORPHA:139399 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... |
ORPHA:289548 |
Adrenoleukodystrophy |
|
Hypogonadism, Primary adrenal insufficiency |
OMIM:300100 |
Mirage Syndrome |
|
Adrenal insufficiency, Hypergonadotropic hypogonadism, Adrenal hypoplasia |
OMIM:617053 |
Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... |
ORPHA:54595 |
Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... |
ORPHA:231214 |
Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma |
ORPHA:139411 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Myocarditis, Increased circulating interleukin 6 concentration, Abnormality of ... |
ORPHA:544482 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... |
ORPHA:168558 |
Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insu... |
ORPHA:2905 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Type I diabetes mellitus, ... |
ORPHA:227982 |
Late-Onset Isolated Acth Deficiency |
|
Decreased circulating ACTH level, Decreased circulating cortisol level, Pituitary adenoma, Type I... |
ORPHA:199299 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Increased circulating ACTH level, Decreased circulating ... |
ORPHA:95409 |
Sarcoidosis, Susceptibility To, 1 |
|
Bronchiectasis, Iridocyclitis, Increased circulating antibody level, Arthritis, Abnormality of T ... |
OMIM:181000 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Anterior pituitary dysgenesis, Type I diabetes mellitus, Primary adrenal insufficiency, ... |
ORPHA:227990 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... |
ORPHA:391665 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
46,Xy Partial Gonadal Dysgenesis |
|
Primary gonadal insufficiency, Decreased serum estradiol, Absence of secondary sex characteristic... |
ORPHA:251510 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... |
ORPHA:320 |
Zellweger Syndrome |
|
Primary adrenal insufficiency |
ORPHA:912 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Adrenal insufficiency, Hypohidrosis |
OMIM:615510 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency |
ORPHA:139396 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Impaired T cell function |
OMIM:192430 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Allergic conjunctivitis, Allergic rhinitis |
OMIM:176690 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothyroidism, Hyperthyroidism, Decreased response to growth hormone stimulation test, Central a... |
ORPHA:488632 |
Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... |
ORPHA:90794 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency |
OMIM:616007 |
Pearson Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Dia... |
ORPHA:699 |
D-Bifunctional Protein Deficiency |
|
Primary adrenal insufficiency |
OMIM:261515 |
Crimean-Congo Hemorrhagic Fever |
|
Hyperhidrosis, Adrenal insufficiency, Acute pancreatitis, Parotitis, Orchitis, Inappropriate anti... |
ORPHA:99827 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... |
ORPHA:363958 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, De... |
OMIM:201750 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Primary adrenal insufficiency |
ORPHA:275761 |
Visceral Steatosis, Congenital |
|
Myocardial steatosis |
OMIM:228100 |
Pallister-Hall Syndrome |
|
Precocious puberty, Gonadotropin deficiency, Hypopituitarism, Thyroid hypoplasia, Panhypopituitar... |
ORPHA:672 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Hypothyroidism |
OMIM:300166 |
Acute Liver Failure |
|
Adrenal insufficiency |
ORPHA:90062 |
Orofaciodigital Syndrome Type 4 |
|
Primary adrenal insufficiency |
ORPHA:2753 |