Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperi... |
ORPHA:35878 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Increased adipose tissue, Polyphagia |
ORPHA:71529 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Palmar telangiectasia, Plantar telangiectasia |
OMIM:175850 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... |
ORPHA:324575 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Insulin resistance, Lipoatrophy |
ORPHA:79084 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... |
ORPHA:276608 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu... |
ORPHA:280356 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia |
OMIM:617885 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Glucose intolerance |
ORPHA:369873 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu... |
ORPHA:181393 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... |
ORPHA:71526 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellitus, Reduced... |
OMIM:604367 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:615703 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Diabetes mellitus, Genera... |
OMIM:612526 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Agitation, Diffuse pancreatic islet hype... |
ORPHA:276556 |
Tempi Syndrome |
|
Increased hematocrit, Increased circulating IgG level, Polycythemia |
ORPHA:284227 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased... |
ORPHA:79085 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... |
ORPHA:69076 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hyperactivity, Reduced intraabdominal adipose tissue, Reduced subcutaneous adip... |
ORPHA:363400 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... |
ORPHA:97279 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:90301 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... |
ORPHA:552 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance |
OMIM:610947 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism |
ORPHA:791 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Insulin resistance, Increased adipose tissue around the neck, Reduced intrathor... |
ORPHA:2457 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... |
ORPHA:263455 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Insulin resistance, Hypoglycemia, Attention deficit hyperactivity di... |
ORPHA:73272 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Riboflavin Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:615026 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Lipodystrophy, Diabetes mellitus, Loss of subcutaneous adi... |
OMIM:615381 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, Diabetic ketoacidosis... |
ORPHA:2298 |
Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism, Glucose intolerance |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, ... |
ORPHA:293964 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... |
OMIM:151660 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:610006 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Decreased adipose tissue around neck, Loss of facial adipose tissue, Loss of su... |
OMIM:608612 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodys... |
ORPHA:528 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Insulin resistance, Diabetes mellitus, Loss of subcutaneous adipose tissue in ... |
ORPHA:79083 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hyperglycemia, Pancreatic... |
OMIM:246200 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Impaired glucose toleranc... |
ORPHA:769 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Lipodystrophy, Diabetes mellitus, Loss of subcutaneous adipose tissue in limb... |
ORPHA:2348 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Hypoglycemia, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
Primary Lipodystrophy |
|
Lipodystrophy, Type II diabetes mellitus, Insulin resistance, Lipoatrophy |
ORPHA:90970 |
Short Syndrome |
|
Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyperglycemia, Lipoatroph... |
OMIM:269880 |
Galactokinase Deficiency |
|
Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia |
ORPHA:79237 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Insulin resistance, Generalized lipodystrophy, Panniculitis, Insulin-resistant ... |
ORPHA:79086 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Insulin resistance, Diabetes mellitus, Elevated circulati... |
OMIM:617253 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance |
ORPHA:199276 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I... |
ORPHA:280365 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Short Syndrome |
|
Lipodystrophy, Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Increased facial adipose tissue, Impaired glucose tolerance, Reduced subcutaneo... |
OMIM:248370 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Hyperinsulinemia, Insulin resistance, Dysphagia |
OMIM:613327 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... |
ORPHA:435651 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:608594 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus |
OMIM:210740 |
Werner Syndrome |
|
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Li... |
ORPHA:902 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seiz... |
ORPHA:71212 |
Silver-Russell Syndrome |
|
Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Premature adrenarche |
ORPHA:813 |
Whipple Disease |
|
Hypothyroidism, Insulin resistance, Polydipsia |
ORPHA:3452 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:269700 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves... |
OMIM:275000 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Monosomy 13Q34 |
|
Insulin resistance |
ORPHA:96168 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Hypothyroidism, Insulin resistance |
OMIM:616541 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hyperactivity, Congenital hypothyroidism |
OMIM:614613 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hypoglycemia |
OMIM:617600 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Oral aversion, Precocious puberty, Decreased response to growth hormone stimulation test, Insulin... |
ORPHA:96182 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Polyphagia, Polydipsia |
OMIM:615986 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Reduced subcutaneous adipose tissue... |
ORPHA:508 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... |
OMIM:258900 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Gitelman Syndrome |
|
Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Maternal diabetes, Insulin... |
ORPHA:358 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance |
ORPHA:90153 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Hypoglycemia |
OMIM:245400 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Reduced subcutaneous adipose tissue, Insulin resistance, Type I diabe... |
OMIM:606721 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Insulin resistance, Hypergonadotropic hypogonadism |
ORPHA:91 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Bardet-Biedl Syndrome 1 |
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Diabetes mellitus, Insulin resistance, Nephrogenic diabetes insipidus, Hypogonadism |
OMIM:209900 |
Idiopathic Congenital Hypothyroidism |
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Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
Familial Thyroid Dyshormonogenesis |
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Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Neoplas... |
ORPHA:79474 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hypothyroidism, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Attention deficit hyperactivit... |
ORPHA:449291 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Bloom Syndrome |
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Diabetes mellitus, Insulin resistance, Adipose tissue loss |
ORPHA:125 |
Steinert Myotonic Dystrophy |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Permanent Congenital Hypothyroidism |
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Hypothermia, Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hypoketotic hypoglycemia, Hypothermia, Fasting hypoglycemia |
ORPHA:159 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... |
ORPHA:85327 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Incr... |
OMIM:609152 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:99226 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypothermia, Hypoglycemia |
OMIM:618329 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Reduced hematocrit, Increased circulating antibody level, Normocytic anemia, Increased circulatin... |
ORPHA:91500 |
Mitchell-Riley Syndrome |
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Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
Genetic Transient Congenital Hypothyroidism |
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Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal radioactive... |
ORPHA:226316 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxi... |
ORPHA:99819 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hypothermia, Hypoglycemia |
OMIM:251880 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxi... |
ORPHA:424 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Absence of subcutaneous fat, Pubertal developmental failure in females, Insu... |
ORPHA:740 |
Acrodysostosis With Multiple Hormone Resistance |
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Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calc... |
ORPHA:280651 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Thyr... |
OMIM:218700 |
Liver Disease, Severe Congenital |
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Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemia |
OMIM:619991 |
Pmm2-Cdg |
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Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Alström Syndrome |
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Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... |
ORPHA:64 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |