Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Gait disturbance, Multiple lipomas, Insulin resistance |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I 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 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance |
ORPHA:140941 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
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 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Cortisone Reductase Deficiency 2 |
|
Premature pubarche, Insulin resistance |
OMIM:614662 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... |
ORPHA:324575 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Obesity Due To Sim1 Deficiency |
|
Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... |
ORPHA:276580 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... |
ORPHA:280356 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... |
ORPHA:181393 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... |
ORPHA:276575 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... |
ORPHA:71526 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... |
ORPHA:363400 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:615703 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... |
OMIM:612526 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Increased intraabdominal ... |
ORPHA:79085 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... |
OMIM:604367 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... |
ORPHA:276556 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance |
OMIM:617885 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... |
ORPHA:90301 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... |
ORPHA:1227 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:435660 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia, Lethargy |
OMIM:610006 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis |
OMIM:615506 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:608600 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... |
ORPHA:263455 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance, Hypogonadism, Hyperactivity, Attention deficit hyperactivity di... |
ORPHA:73272 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis... |
OMIM:608612 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... |
ORPHA:2298 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypogonadism, Lipodystrophy, Diabetes mellitus, Insulin resistance |
OMIM:615381 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypog... |
ORPHA:453533 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Insulin resistance, Lipodystrophy, Adipose tissue loss, Diabetes m... |
ORPHA:528 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... |
OMIM:246200 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Athetosis, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:248370 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resi... |
ORPHA:79083 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity |
ORPHA:85288 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Lipoatrophy, Dia... |
ORPHA:2348 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hypothermia, Insulin resistance |
ORPHA:230 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Growth Factors, Combined Defect Of |
|
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue |
OMIM:233805 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Progressive cerebellar ataxia... |
OMIM:210740 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Primary Lipodystrophy |
|
Lipoatrophy, Lipodystrophy, Type II diabetes mellitus, Insulin resistance |
ORPHA:90970 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... |
ORPHA:769 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized lipodystrophy,... |
ORPHA:79086 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Lipodystrophy, Insulin resistance |
ORPHA:199276 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:280365 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Short Syndrome |
|
Lipodystrophy, Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Gait disturbance, Insulin resistance, Dysmetria, Ataxia, Dysdiadochokinesis, Diabetes mellitus, H... |
OMIM:616541 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Fasting hyperinsu... |
ORPHA:71212 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus |
OMIM:260370 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Hyperinsulinemia, Insulin resistance |
OMIM:613327 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Neonatal hypoglycemia |
OMIM:223360 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Increased red blood cell count, Increased mean ... |
ORPHA:90041 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipodystrophy,... |
ORPHA:435651 |
Alstrom Syndrome |
|
Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodular goiter, Hypothyroidism, Hyp... |
OMIM:203800 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Silver-Russell Syndrome |
|
Recurrent hypoglycemia, Premature adrenarche, Precocious puberty, Insulin resistance |
ORPHA:813 |
Woodhouse-Sakati Syndrome |
|
Dystonia, Streak ovary, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased serum est... |
ORPHA:3464 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Bardet-Biedl Syndrome 1 |
|
Gait imbalance, Insulin resistance, Hypogonadism, Ataxia, Nephrogenic diabetes insipidus, Diabete... |
OMIM:209900 |
Whipple Disease |
|
Ataxia, Hypothyroidism, Insulin resistance |
ORPHA:3452 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Generalized lipodystrophy, Insulin resistance |
ORPHA:90154 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Duodenal Neuroendocrine Tumor |
|
Iron deficiency anemia, Increased hematocrit |
ORPHA:100076 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Hyperactivity |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Idiopathic Congenital Hypothyroidism |
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Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, H... |
ORPHA:95717 |
Mannosidosis, Beta A, Lysosomal |
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Hyperactivity |
OMIM:248510 |
Werner Syndrome |
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Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Hypogonadism, Li... |
ORPHA:902 |
Prader-Willi Syndrome |
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Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Delayed puberty,... |
OMIM:176270 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Hyperactivity, Lethargy |
OMIM:274270 |
Morm Syndrome |
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Hyperactivity |
ORPHA:75858 |
Leprechaunism |
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Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Reduced subcutaneous adipose ti... |
ORPHA:508 |
Monosomy 13Q34 |
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Insulin resistance |
ORPHA:96168 |
Acute Interstitial Pneumonia |
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Reduced hematocrit |
ORPHA:79126 |
Familial Thyroid Dyshormonogenesis |
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Lethargy, Congenital hypothyroidism, Goiter, Hypothermia, Increased radioactive iodine uptake, De... |
ORPHA:95716 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... |
OMIM:608594 |
Orotic Aciduria |
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Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait |
OMIM:619470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hyperglycemia, Ataxia, Hypoglycemia |
OMIM:220111 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... |
OMIM:269700 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Hyperactivity |
OMIM:615541 |
Mental Retardation, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Spontaneous Periodic Hypothermia |
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Gait disturbance, Ataxia, Hypothermia |
ORPHA:29822 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Decreased response to growth horm... |
ORPHA:96182 |
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 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Falls |
ORPHA:2382 |
Aromatase Deficiency |
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Type II diabetes mellitus, Hypergonadotropic hypogonadism, Insulin resistance |
ORPHA:91 |
Short Syndrome |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Lipodystrophy, Lipoatrophy |
OMIM:269880 |
Optic Atrophy 11 |
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Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Fasting hypoglycemia, Hypoketotic hypoglycemia, Hypothermia, Lethargy |
ORPHA:159 |
Gitelman Syndrome |
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Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Insulin resistance, Dia... |
ORPHA:358 |
Pancreatic And Cerebellar Agenesis |
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Hyperglycemia, Hypoglycemia, Diabetes mellitus, Reduced subcutaneous adipose tissue |
OMIM:609069 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Phenylketonuria |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Developmental And Epileptic Encephalopathy 78 |
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Inability to walk, Hypothermia |
OMIM:618557 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Hyperactivity, Precocious puberty, Broad-based gait |
ORPHA:457260 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Attention deficit hyperactivit... |
ORPHA:449291 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... |
ORPHA:85327 |
Steinert Myotonic Dystrophy |
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Testicular atrophy, Non-medullary thyroid carcinoma, Gait disturbance, Insulin resistance, Second... |
ORPHA:273 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Hyperactivity, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Bloom Syndrome |
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Adipose tissue loss, Diabetes mellitus, Insulin resistance |
ORPHA:125 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Lethargy, Hypoglycemia, Inappropriate antidiuretic hormone secretion, Hypothermia, Thyroid hypopl... |
ORPHA:226307 |
Landau-Kleffner Syndrome |
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Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
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Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
Genetic Transient Congenital Hypothyroidism |
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Goiter, Hypothermia, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thy... |
ORPHA:226316 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia |
ORPHA:2126 |
Primary Erythromelalgia |
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Hypothermia |
ORPHA:90026 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Hypothermia, Thyr... |
ORPHA:90673 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Hyperactivity, Gait disturbance, Neonatal hypoglycemia |
ORPHA:457485 |
Necrotizing Enterocolitis |
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Hyperglycemia, Abnormal glucose homeostasis, Lethargy |
ORPHA:391673 |
Atypical Werner Syndrome |
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Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... |
ORPHA:79474 |
Tenorio Syndrome |
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Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Cln5 Disease |
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Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity, Graves disease, Goiter |
OMIM:275000 |
Permanent Congenital Hypothyroidism |
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Hypothermia, Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Hyperactivity, Precocious puberty, Broad-based gait |
OMIM:300958 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hypoglycemia, Hypothermia |
OMIM:251880 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
X-Linked Adrenoleukodystrophy |
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Gait disturbance, Adrenal insufficiency, Hyperactivity, Abnormality of adrenal physiology, Attent... |
ORPHA:43 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Congenital hypothyroidism, Hypothermia, Goiter, Decreased circulating T4 level, Elevated circulat... |
ORPHA:226313 |
Hyperlysinemia, Type I |
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Hyperactivity |
OMIM:238700 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Lethargy, Goiter, Hypothermia, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-st... |
ORPHA:90674 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Unsteady gait, Hyperactivity |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... |
ORPHA:99413 |
Turner Syndrome |
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Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... |
ORPHA:881 |
Mosaic Monosomy X |
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Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... |
ORPHA:99228 |
Monosomy X |
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Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin level, Increased circul... |
ORPHA:99226 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... |
ORPHA:91500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Hypothermia, Lethargy |
ORPHA:26793 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Hyperthyroidism, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Absence of subcutaneous fat, Shuffling gait, Decreased serum leptin, Pubertal... |
ORPHA:740 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypothermia, Recurrent hypoglycemia, Ataxia, Nonketotic hypoglycemia, Lethargy |
ORPHA:20 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
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Hyperactivity |
OMIM:615824 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Primary adrenal insufficiency, Hyperactivity, Inability to walk, Mal... |
ORPHA:139396 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Hyperglycemia, Glycosuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreat... |
ORPHA:99885 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypoglycemia, Hypothermia |
OMIM:618329 |
47,Xyy Syndrome |
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Attention deficit hyperactivity disorder, Hyperactivity, Increased serum testosterone level, Incr... |
ORPHA:8 |
Pediatric-Onset Graves Disease |
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Increased circulating T4 level, Goiter, Hyperactivity, Thyrotoxicosis with diffuse goiter, Graves... |
ORPHA:525731 |
Acrodysostosis With Multiple Hormone Resistance |
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Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... |
ORPHA:280651 |
Alexander Disease |
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Gait disturbance, Hypothermia, Ataxia, Diabetes mellitus, Hypothyroidism, Precocious puberty |
ORPHA:58 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Familial Gestational Hyperthyroidism |
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Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... |
ORPHA:99819 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Mitchell-Riley Syndrome |
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Hyperglycemia |
OMIM:615710 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... |
ORPHA:424 |
Brain-Lung-Thyroid Syndrome |
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Dystonia, Hypoparathyroidism, Congenital hypothyroidism, Thyroid hemiagenesis, Falls, Elevated ci... |
ORPHA:209905 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hyperactivity |
OMIM:618314 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Ectopic thyroid, Congenital hypothyroidism, Goiter, Hypothermia, Thyroid hypoplasia, Elevated cir... |
OMIM:218700 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Ataxia, Hypoglycemia, Hypothermia, Lethargy |
ORPHA:79282 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Unsteady gait, Dystonia, Hypoglycemia, Hypothermia |
ORPHA:17 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia |
OMIM:610042 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Central hypothyroidism, Hypothermia, Hyperglycemia, Premature adrenarche, Abnormality of the hypo... |
ORPHA:293987 |
Pmm2-Cdg |
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Insulin resistance, Hypogonadotropic hypogonadism, Lipodystrophy, Abnormal subcutaneous fat tissu... |
ORPHA:79318 |
Distal Monosomy 12Q |
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Maturity-onset diabetes of the young, Hyperactivity, Pituitary adenoma, Diabetes mellitus |
ORPHA:96149 |
Legius Syndrome |
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Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Multiple lipomas |
ORPHA:137605 |
Menkes Disease |
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Hypoglycemia, Hypothermia |
ORPHA:565 |
Alström Syndrome |
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Precocious puberty in females, Type II diabetes mellitus, Insulin resistance, Dorsocervical fat p... |
ORPHA:64 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm |
OMIM:234200 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Hypothermia, Lethargy |
ORPHA:99826 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |