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 |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
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 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613000 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
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, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... |
ORPHA:314811 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia |
ORPHA:79084 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
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, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Delayed puber... |
OMIM:616033 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decreased c... |
ORPHA:453533 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... |
ORPHA:79085 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435660 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity |
OMIM:614962 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi... |
ORPHA:276580 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... |
OMIM:615238 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis |
OMIM:175800 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Obesity |
OMIM:620195 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly... |
ORPHA:276575 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... |
ORPHA:363400 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... |
ORPHA:528 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
ORPHA:280365 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... |
OMIM:246200 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Lipodyst... |
OMIM:608594 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
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 T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Lipodys... |
OMIM:269700 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... |
OMIM:614736 |
Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... |
ORPHA:785 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... |
OMIM:248370 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... |
ORPHA:95619 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... |
ORPHA:79086 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Failur... |
ORPHA:79237 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Rett Syndrome |
|
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... |
ORPHA:778 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Thick h... |
ORPHA:769 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... |
ORPHA:95496 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Vasculitis, Abnormal circulating interl... |
ORPHA:70578 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Hematolo... |
ORPHA:3243 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Central hypothyroidis... |
OMIM:616113 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Failure to thrive, Hirs... |
OMIM:613327 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Increased circulating interleukin 6 concentration, Heart block, Capillary leak, Incr... |
ORPHA:542323 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... |
OMIM:609069 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin... |
ORPHA:79474 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Acute Lung Injury |
|
Shock, Increased circulating interleukin 6 concentration, Diffuse alveolar hemorrhage, Abnormalit... |
ORPHA:178320 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... |
ORPHA:540 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ... |
ORPHA:158061 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Hereditary Orotic Aciduria |
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Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria |
OMIM:616026 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:71212 |
Alstrom Syndrome |
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Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:203800 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... |
ORPHA:572 |
Nestor-Guillermo Progeria Syndrome |
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Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Congenital Disorder Of Glycosylation, Type Iil |
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Patent ductus arteriosus, Decreased specific anti-polysaccharide antibody level, Impaired T cell ... |
OMIM:614576 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity |
OMIM:242700 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... |
ORPHA:786 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... |
OMIM:613179 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:176270 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Woodhouse-Sakati Syndrome |
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Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
Hutchinson-Gilford Progeria Syndrome |
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Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Wiskott-Aldrich Syndrome |
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Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Parenteral Nutrition-Associated Cholestasis |
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Splenomegaly, Abnormality of cytokine secretion, Portal hypertension |
ORPHA:567983 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Alopecia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating go... |
ORPHA:99413 |
Turner Syndrome |
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Alopecia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating go... |
ORPHA:881 |
Mosaic Monosomy X |
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Alopecia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating go... |
ORPHA:99228 |
Monosomy X |
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Alopecia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating go... |
ORPHA:99226 |
Steinert Myotonic Dystrophy |
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Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone... |
ORPHA:273 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
22Q11.2 Deletion Syndrome |
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Patent ductus arteriosus, Impaired T cell function |
ORPHA:567 |
Pmm2-Cdg |
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Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circulating g... |
ORPHA:79318 |
Alström Syndrome |
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Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Frontal balding, Pr... |
ORPHA:64 |
Digeorge Syndrome |
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Patent ductus arteriosus, Impaired T cell function |
OMIM:188400 |