Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty |
ORPHA:140941 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Pa Polymorphism Of Alpha-2-Globulin |
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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 |
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Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Diabetes Mellitus, Ketosis-Prone |
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Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Insulinomatosis And Diabetes Mellitus |
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Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Familial Cylindromatosis |
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Telangiectasia of the skin |
ORPHA:211 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
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 |
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Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, Polyphagia, Hyp... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Plin1-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Agitation, Fasting hy... |
ORPHA:276608 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Polyphagia, Increased serum leptin |
OMIM:617885 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizures, Agitation, ... |
ORPHA:276575 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Lipoatrophy, Insulin resistance, Lipodystrophy |
OMIM:613877 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... |
OMIM:616033 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
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 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:615703 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... |
OMIM:612526 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Agitation, Hyperinsulinemic... |
ORPHA:276556 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... |
ORPHA:363400 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Lipodystrophy |
OMIM:615980 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Agitation, Fasting hypoglycemia, Glycosuria,... |
ORPHA:263455 |
Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Insulin resistance, Hypogonadism, Attention deficit hyperactivity di... |
ORPHA:73272 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Insulin resistanc... |
OMIM:615381 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:2298 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... |
ORPHA:293964 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... |
ORPHA:528 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Maternal diabetes, ... |
ORPHA:79083 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... |
OMIM:246200 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... |
ORPHA:2348 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Hypothermia |
ORPHA:230 |
Short Syndrome |
|
Lipoatrophy, Lipodystrophy, Insulin resistance, Absence of subcutaneous fat, Insulin-resistant di... |
OMIM:269880 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypoglycemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Seckel Syndrome 10 |
|
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizing hormone level, In... |
OMIM:617253 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... |
ORPHA:79086 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus, Lipodystrophy |
ORPHA:3163 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:248370 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Lipodystrophy, Dysphagia |
OMIM:613327 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Werner Syndrome |
|
Lipoatrophy, Lipodystrophy, Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus, Hyp... |
ORPHA:902 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Whipple Disease |
|
Insulin resistance, Polydipsia, Hypothyroidism, Anorexia |
ORPHA:3452 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Self-inju... |
ORPHA:449291 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Recurrent hypoglycemia, Precocious puberty |
ORPHA:813 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... |
ORPHA:71212 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Delayed puberty, Generalized lipodystrophy |
ORPHA:90154 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Diabetes mellitus, Hypothyroidism |
OMIM:616541 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Monosomy 13Q34 |
|
Insulin resistance |
ORPHA:96168 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Insulin resistance, Or... |
ORPHA:96182 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Gitelman Syndrome |
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Salt craving, Maternal diabetes, Insulin resistance, Parathyroid adenoma, Glucose intolerance, Di... |
ORPHA:358 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Hypoglycemia, Hypothermia |
OMIM:245400 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance |
ORPHA:90153 |
Lipodystrophy, Familial Partial, Type 7 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Aromatase Deficiency |
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Insulin resistance, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:91 |
Timothy Syndrome |
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Hypothyroidism, Hypoglycemia, Hypothermia |
OMIM:601005 |
Familial Thyroid Dyshormonogenesis |
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Positive perchlorate discharge test, Hypothermia, Thyroid defect in oxidation and organification ... |
ORPHA:95716 |
Cole Disease |
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Hyperglycemia |
OMIM:615522 |
Bardet-Biedl Syndrome 1 |
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Nephrogenic diabetes insipidus, Insulin resistance, Diabetes mellitus, Hypogonadism |
OMIM:209900 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
ORPHA:85327 |
Atypical Werner Syndrome |
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Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab... |
ORPHA:79474 |
Bloom Syndrome |
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Adipose tissue loss, Insulin resistance, Diabetes mellitus |
ORPHA:125 |
Steinert Myotonic Dystrophy |
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Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Solitary Fibrous Tumor |
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Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... |
ORPHA:226313 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Fasting hypoglycemia, Hypothermia, Hypoketotic hypoglycemia |
ORPHA:159 |
Hyperthyroidism, Nonautoimmune |
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Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
ORPHA:226307 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Genetic Transient Congenital Hypothyroidism |
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Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Hypothermia, Pituitary hypothyroidism, Attention def... |
ORPHA:90674 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypoglycemia, Hypothermia |
OMIM:618329 |
Alexander Disease |
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Diabetes mellitus, Hypothermia, Precocious puberty, Self-injurious behavior, Dysphagia, Hypothyro... |
ORPHA:58 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hypoglycemia, Hypothermia |
OMIM:251880 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Nonketotic hypoglycemia, Recurrent hypoglycemia, Hypothermia, Anorexia |
ORPHA:20 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Polydipsia, Decreased response to growth hormone stimulation test, Hypothermia, Central diabetes ... |
ORPHA:293987 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Del... |
ORPHA:740 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Pmm2-Cdg |
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Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, ... |
ORPHA:79318 |
Liver Disease, Severe Congenital |
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Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemia |
OMIM:619991 |
Alström Syndrome |
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Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Precocious puberty ... |
ORPHA:64 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |