Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit... |
ORPHA:35878 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... |
ORPHA:181393 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... |
ORPHA:324575 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:615703 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Lipodystrophy, Diabetes mellitus,... |
OMIM:612526 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat, Insulin-resistant diabetes m... |
ORPHA:79085 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hyp... |
ORPHA:363400 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Decreased ... |
ORPHA:435660 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Lipodystrophy, Diabetes mellitus |
OMIM:615980 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension |
OMIM:615506 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Attention deficit hyperactivity disorder, Hypogonadism, Insulin resi... |
ORPHA:73272 |
Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... |
ORPHA:2298 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Lipodystrophy, Hypogonadism, Diabetes mellitus |
OMIM:615381 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Generalized l... |
OMIM:608612 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Lipodystrophy, Adipose tissue loss, Diabetes mel... |
ORPHA:528 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Maternal diabetes, Loss of facial adipose tissue, Insulin-resistant diabetes mellitu... |
ORPHA:79083 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Lipodystrophy, Diabetes mellitus, Insulin resistance, Loss of subcutaneous adipose t... |
ORPHA:2348 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Primary Lipodystrophy |
|
Insulin resistance, Lipodystrophy, Type II diabetes mellitus, Lipoatrophy |
ORPHA:90970 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus |
OMIM:233805 |
Galactokinase Deficiency |
|
Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia |
ORPHA:79237 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... |
ORPHA:769 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resista... |
ORPHA:79086 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose... |
OMIM:617253 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Decre... |
ORPHA:280365 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Short Syndrome |
|
Insulin resistance, Lipodystrophy, Diabetes mellitus |
ORPHA:3163 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... |
OMIM:615954 |
Bangstad Syndrome |
|
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
OMIM:210740 |
Gaisböck Syndrome |
|
Increased red blood cell count, Elevated plasma cell count, Increased hematocrit, Increased mean ... |
ORPHA:90041 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystrophy, Insulin-resis... |
ORPHA:435651 |
Werner Syndrome |
|
Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Lipodystrophy, Hypogonadism, Insulin r... |
ORPHA:902 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Lipodystrophy, Hyperinsulinemia |
OMIM:613327 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia, Precocious puberty, Premature adrenarche |
ORPHA:813 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... |
ORPHA:71212 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... |
OMIM:608594 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Hypothyroidism, Diabetes mellitus |
OMIM:616541 |
Monosomy 13Q34 |
|
Insulin resistance |
ORPHA:96168 |
Whipple Disease |
|
Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Leprechaunism |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Insulin resist... |
ORPHA:508 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Hyperinsulinemia, Precocious puberty, Type II diabetes mellitus, Decreased... |
OMIM:176270 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Hypothermia |
OMIM:245400 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Insulin resistance, Fa... |
ORPHA:96182 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance |
ORPHA:90153 |
Short Syndrome |
|
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:269880 |
Aromatase Deficiency |
|
Insulin resistance, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:91 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... |
OMIM:275000 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Nephrogenic diabetes insipidus, Hypogonadism, Diabetes mellitus |
OMIM:209900 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a... |
OMIM:606721 |
Gitelman Syndrome |
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Glucose intolerance, Type II diabetes mellitus, Graves disease, Parathyroid adenoma, Diabetic ket... |
ORPHA:358 |
Idiopathic Congenital Hypothyroidism |
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Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulatin... |
ORPHA:95717 |
Familial Thyroid Dyshormonogenesis |
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Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... |
ORPHA:95716 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Glycosuria, Generalized lipodystrophy, ... |
ORPHA:79474 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Hyperthyroidism, Hypothyroidism, Attention deficit hyperactivity disorder, Diabete... |
ORPHA:449291 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Elevated circulating growth hormone concentration, Hyperactivity, Decreased serum insulin-like gr... |
ORPHA:85327 |
Bloom Syndrome |
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Insulin resistance, Adipose tissue loss, Diabetes mellitus |
ORPHA:125 |
Primary Erythromelalgia |
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Hypothermia |
ORPHA:90026 |
Permanent Congenital Hypothyroidism |
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Thyroid dysgenesis, Hypothermia, Goiter, Hypothyroidism |
ORPHA:226292 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hypoglycemia, Hypothermia |
OMIM:251880 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Fasting hypoglycemia, Hypoketotic hypoglycemia, Hypothermia |
ORPHA:159 |
Steinert Myotonic Dystrophy |
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Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulat... |
ORPHA:226313 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Hypothermia, Decreased circulating T4 concentration,... |
ORPHA:226307 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:99413 |
Turner Syndrome |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:881 |
Mosaic Monosomy X |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:99228 |
Monosomy X |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:99226 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Hypothermia, Decreased circulating T4 concentration,... |
ORPHA:90674 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaire... |
ORPHA:90673 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Increased circulating antibody level, Normocytic anemia, Increased circulating IgG level, Reduced... |
ORPHA:91500 |
Genetic Transient Congenital Hypothyroidism |
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Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... |
ORPHA:226316 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypoglycemia, Hypothermia |
OMIM:618329 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Hyperthyroidism, Nonautoimmune |
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Goiter, Hyperactivity, Thyroid hyperplasia, Hyperthyroidism |
OMIM:609152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Hypothermia |
OMIM:616501 |
Hutchinson-Gilford Progeria Syndrome |
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Delayed menarche, Pubertal developmental failure in females, Decreased serum leptin, Absence of s... |
ORPHA:740 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Hypothermia |
ORPHA:26793 |
Mitchell-Riley Syndrome |
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Hyperglycemia |
OMIM:615710 |
Acrodysostosis With Multiple Hormone Resistance |
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Elevated calcitonin, Hyperactivity, Decreased response to growth hormone stimulation test, Elevat... |
ORPHA:280651 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... |
ORPHA:424 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Nonketotic hypoglycemia, Hypothermia, Recurrent hypoglycemia |
ORPHA:20 |
Alexander Disease |
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Hypothyroidism, Hypothermia, Precocious puberty, Diabetes mellitus |
ORPHA:58 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hypothermia, Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimula... |
ORPHA:293987 |
Menkes Disease |
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Hypoglycemia, Hypothermia |
ORPHA:565 |
Pmm2-Cdg |
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Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonadotropic hypogonadis... |
ORPHA:79318 |
Liver Disease, Severe Congenital |
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Hyperinsulinemic hypoglycemia |
OMIM:619991 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothermia, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thy... |
OMIM:218700 |
Alström Syndrome |
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Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Decreased circulating... |
ORPHA:64 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |