Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Pol... |
ORPHA:329249 |
Obesity Due To Sim1 Deficiency |
|
Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive i... |
ORPHA:369873 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei... |
ORPHA:276608 |
Hypoglycemia, Leucine-Induced |
|
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... |
ORPHA:276580 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... |
ORPHA:276575 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short attention span, Elevated circulating thyroid-stimulating hormone concentration, Abnormal ci... |
ORPHA:171706 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity |
OMIM:615703 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... |
ORPHA:280356 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Insulin resistance, Hyperinsulinemia, Progressive psychomotor deteri... |
ORPHA:363400 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Progressive neurologic deterioration, Large for gest... |
ORPHA:263455 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis |
OMIM:613877 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for ... |
ORPHA:79237 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Hepatic steatosis, Abdominal obesity |
OMIM:615980 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance,... |
ORPHA:73272 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... |
ORPHA:2298 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity |
ORPHA:3085 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Severe failure to thrive, Pancreatic islet-cel... |
OMIM:246200 |
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 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Insulin resistance, Elevated circ... |
OMIM:615381 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... |
ORPHA:79083 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Confusion, Fasting hyperinsulinemia, Hypogl... |
ORPHA:71212 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Failure to thrive, Small for gestational age, Progressive neurologic deterior... |
OMIM:214150 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Irritability, Glycosuria, Postprandial hyper... |
ORPHA:2089 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa... |
OMIM:602579 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... |
ORPHA:79086 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, ... |
OMIM:613327 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Whipple Disease |
|
Hepatomegaly, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Depression, Polydipsia, Hypot... |
ORPHA:3452 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... |
ORPHA:3077 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia |
OMIM:608600 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... |
OMIM:269880 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... |
OMIM:608594 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... |
ORPHA:813 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus, Weight loss |
ORPHA:3163 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Insulin resistance, Truncal obesity, Cognitive impairment, Hypothyroidism |
OMIM:616541 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal... |
ORPHA:280365 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenome... |
OMIM:269700 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Obesity |
ORPHA:96168 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Leprechaunism |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, I... |
ORPHA:508 |
Werner Syndrome |
|
Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Slender build |
ORPHA:902 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Obesity, Type II diabetes ... |
ORPHA:91 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deteri... |
OMIM:615453 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Insulin resistance, Glucose intoleranc... |
ORPHA:358 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
Familial Multiple Lipomatosis |
|
Insulin resistance |
ORPHA:199276 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... |
OMIM:615710 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Delayed puberty |
ORPHA:90154 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Abnormal circulating leptin concentratio... |
ORPHA:79474 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99226 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance |
ORPHA:90153 |
Bloom Syndrome |
|
Insulin resistance, Diabetes mellitus, Small for gestational age, Abdominal obesity |
ORPHA:125 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Small for gestational age, Insulin resistance, Glucose intolerance, R... |
OMIM:606721 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... |
OMIM:619991 |
Tenorio Syndrome |
|
Emotional lability, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity |
OMIM:615812 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe failure to t... |
ORPHA:740 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... |
ORPHA:79318 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |