Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
OMIM:148730 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Perioral hyperkeratosis |
OMIM:613000 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Immunodeficiency 18 |
|
Defective T cell proliferation |
OMIM:615615 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Decreased circulating IgG2 level... |
OMIM:615897 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Abnormality of body weight, Delayed puberty, Hypoglycemia, Decreased serum... |
ORPHA:314811 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Pituitary hypothyroidism, Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose ti... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Pituitary hypothyroidism, Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose ti... |
ORPHA:71526 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu... |
ORPHA:280356 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Hyperinsulinemia, Insulin resistance, Diabetes mellitus |
ORPHA:79084 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Immunodeficiency 11 |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... |
ORPHA:552 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissu... |
OMIM:604367 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity |
OMIM:617885 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Alopecia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:453533 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... |
OMIM:607271 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adiponect... |
ORPHA:79085 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Decreased serum leptin, Lipodystr... |
ORPHA:435651 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Fine hair, Diabe... |
ORPHA:181393 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adipon... |
OMIM:615238 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... |
OMIM:262190 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:604117 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis |
OMIM:175800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Hypogonadism |
OMIM:616113 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Increased resting energy expenditure, Polyphagia, Attention deficit hyperactivi... |
ORPHA:369873 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Mandibuloacral Dysplasia |
|
Alopecia, Hyperinsulinemia, Contractures of the large joints, Glucose intolerance, Insulin resist... |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d... |
OMIM:151660 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity |
ORPHA:791 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, De... |
ORPHA:2298 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Ins... |
ORPHA:363400 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276556 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Hyperinsulinemia, Flexion contracture, Hyperglycemia, Brittle hair, Decreased adipose t... |
OMIM:608612 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Reduced antigen-specific T cell proliferation, Increased circula... |
OMIM:617241 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... |
OMIM:240500 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Delayed ... |
OMIM:615363 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Diabete... |
ORPHA:528 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... |
ORPHA:97279 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hyperglycemia, Severe fai... |
OMIM:246200 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... |
OMIM:607594 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... |
OMIM:300853 |
Tenorio Syndrome |
|
Hypertrichosis, Hypoglycemia, Thick eyebrow, Hypoinsulinemia |
OMIM:616260 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... |
OMIM:614736 |
Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Sparse scalp ha... |
OMIM:248370 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Absence of secondary sex characteristics, Abnorm... |
ORPHA:785 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Neonatal hypog... |
ORPHA:263455 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... |
OMIM:619374 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Post-Traumatic Pituitary Deficiency |
|
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... |
ORPHA:95619 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Insulin resistance, Generalized lipodystrophy, Insulin-resistant diabetes melli... |
ORPHA:79086 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... |
ORPHA:69076 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:619774 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:601859 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Failure to thrive, Hypoglycemia, Hypergonadotropic h... |
ORPHA:79237 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased T cell activation, Decreased circulating IgE, Impaired Ig class switch recombination, I... |
OMIM:308230 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperpla... |
ORPHA:189427 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Premature graying of hair... |
ORPHA:769 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
OMIM:131100 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... |
ORPHA:70578 |
Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia,... |
ORPHA:95496 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Sterile abscess, Breast carcinoma, Chronic lymphatic leukemia, Sm... |
ORPHA:3243 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... |
OMIM:600802 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Increased circulating interleukin 6 concentration, Reduced left ventricular ejection... |
ORPHA:542323 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Insulin resistance, Lipodystrophy, Failure to thrive, Hirs... |
OMIM:613327 |
Rett Syndrome |
|
Failure to thrive, Cholecystitis, Increased serum leptin, Agitation |
ORPHA:778 |
Pancreatic And Cerebellar Agenesis |
|
Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Failur... |
OMIM:609069 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Hep... |
ORPHA:79474 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Keppen-Lubinsky Syndrome |
|
Flexion contracture, Decreased serum leptin, Failure to thrive, Generalized lipodystrophy, Lack o... |
OMIM:614098 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ... |
ORPHA:540 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:158061 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... |
ORPHA:508 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:209920 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:603909 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age |
OMIM:616026 |
Alstrom Syndrome |
|
Alopecia, Hyperinsulinemia, Hypothyroidism, Diabetes insipidus, Decreased response to growth horm... |
OMIM:203800 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:71212 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Nestor-Guillermo Progeria Syndrome |
|
Decreased serum leptin, Flexion contracture, Failure to thrive, Lipoatrophy |
OMIM:614008 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Decreased specific anti-polysaccharide antibody level, Impaired T cell ... |
OMIM:614576 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... |
OMIM:613179 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... |
OMIM:176270 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperinsulinemia, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Decreased serum es... |
ORPHA:3464 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... |
OMIM:618213 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Bone marrow hypocellularity, Abnormal lymphocyte physiology |
ORPHA:1830 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Female hypogonadism, Absence of subcutaneous fat, Pubertal developmental failure in fem... |
ORPHA:740 |
Thymic Aplasia |
|
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Portal hypertension, Splenomegaly |
ORPHA:567983 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... |
OMIM:301000 |
Visceral Steatosis, Congenital |
|
Jaundice, Myocardial steatosis |
OMIM:228100 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Steinert Myotonic Dystrophy |
|
Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Alopecia, Hyperinsulinemia, Type II diabetes mellitus, Thyroidit... |
ORPHA:99226 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... |
ORPHA:391665 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:567 |
Pmm2-Cdg |
|
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Alström Syndrome |
|
Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... |
ORPHA:64 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Impaired T cell function |
OMIM:188400 |