Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 4 |
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Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Lipodystrophy, Familial Partial, Type 6 |
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Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c... |
OMIM:615980 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... |
OMIM:612526 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Increased hepatic glycogen content, Increased circulating free fatty acid level |
ORPHA:293964 |
Lipodystrophy, Familial Partial, Type 3 |
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Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Multiple Symmetric Lipomatosis |
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Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology |
ORPHA:2398 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
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Increased level of platelet-activating factor |
OMIM:614278 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Prolonged QT interv... |
ORPHA:26793 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:617885 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
D-Glyceric Aciduria |
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Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hypertrigl... |
ORPHA:435660 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
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Insulin resistance |
ORPHA:140941 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Abnormal circulating... |
ORPHA:71212 |
Akt2-Related Familial Partial Lipodystrophy |
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Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Inc... |
ORPHA:79085 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Mandibuloacral Dysplasia |
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Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Acquired Partial Lipodystrophy |
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Myopathy, Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Pparg-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Hypertriglyceridemia... |
ORPHA:79083 |
Congenital Disorder Of Glycosylation, Type Im |
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Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Familial Partial Lipodystrophy, Köbberling Type |
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Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Cortisone Reductase Deficiency 2 |
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Insulin resistance |
OMIM:614662 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro... |
OMIM:615381 |
Lipodystrophy, Familial Partial, Type 1 |
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Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Diabetes mellitus, Lipodystro... |
ORPHA:2348 |
Congenital Generalized Lipodystrophy |
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Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, ... |
ORPHA:528 |
Plin1-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Familial Multiple Lipomatosis |
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Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Acquired Generalized Lipodystrophy |
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Calf muscle pseudohypertrophy, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabet... |
ORPHA:79086 |
Seckel Syndrome 10 |
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Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins... |
OMIM:617253 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Centrall... |
OMIM:613327 |
Cidec-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Insulin-resist... |
ORPHA:435651 |
Placental Insufficiency |
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Hypoxemia, Insulin resistance |
ORPHA:439167 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Cerebrooculofacioskeletal Syndrome 1 |
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Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Cam... |
OMIM:214150 |
Familial Renal Glucosuria |
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Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Smith-Magenis Syndrome |
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Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Abnormal heart morphology, Onych... |
OMIM:182290 |
8p23.1 deletion syndrome |
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Hyperactivity, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial septal defect, ... |
DECIPHER:39 |
Citrullinemia Type Ii |
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Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Restlessness, D... |
ORPHA:247585 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Insulin-resistant diabetes mellitus, Insulin resistance |
ORPHA:90301 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Lipodystrophy, Familial Partial, Type 2 |
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Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Decreased circulating plasmalogen concentration, Flexion contracture |
OMIM:222765 |
Short Syndrome |
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Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Insulin-resistant di... |
OMIM:269880 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Potocki-Lupski Syndrome |
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Hyperactivity, Oral-pharyngeal dysphagia, Patent foramen ovale, Hypocholesterolemia, Atrial septa... |
OMIM:610883 |
Aromatase Deficiency |
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Insulin resistance, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:91 |
Rabson-Mendenhall Syndrome |
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Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... |
ORPHA:769 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Short Syndrome |
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Insulin resistance, Diabetes mellitus, Lipodystrophy |
ORPHA:3163 |
Lipodystrophy, Familial Partial, Type 7 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Werner Syndrome |
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Skeletal muscle atrophy, Lipodystrophy, Lipoatrophy, Insulin resistance, Type II diabetes mellitus |
ORPHA:902 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmonic stenosis, Fac... |
OMIM:620141 |
19P13.12 Microdeletion Syndrome |
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Aortic regurgitation, Hyperactivity, Ventricular septal defect, Hyperlipidemia, Self-injurious be... |
ORPHA:254346 |
Obesity Due To Congenital Leptin Deficiency |
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Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:66628 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Silver-Russell Syndrome |
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Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia |
ORPHA:813 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:179494 |
Whipple Disease |
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Hyponatremia, Myositis, Insulin resistance |
ORPHA:3452 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Insulin resistance, Hyperinsulinemi... |
ORPHA:508 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... |
OMIM:248370 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Diabetes mellitus, Insulin resistance, Abnormal circulating lipid concentration |
OMIM:616541 |
Marbach-Rustad Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Mody |
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Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Gitelman Syndrome |
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Maternal diabetes, Insulin resistance, Rhabdomyolysis, Hypermagnesemia, Glucose intolerance, Hypo... |
ORPHA:358 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Monosomy 13Q34 |
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Insulin resistance, Hypercalcemia |
ORPHA:96168 |
Thalidomide Embryopathy |
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Insulin resistance |
ORPHA:3312 |
Bardet-Biedl Syndrome 1 |
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Left ventricular hypertrophy, Insulin resistance, Diabetes mellitus |
OMIM:209900 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Insulin resistance, Decreased muscle mass, Fasting hypoglycemia |
ORPHA:96182 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Diabetes mellitus, Weakness of facial musculature, Abnormality of the to... |
ORPHA:273 |
Bloom Syndrome |
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Adipose tissue loss, Insulin resistance, Diabetes mellitus |
ORPHA:125 |
Argininemia |
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Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Porta... |
OMIM:207800 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Cyanosis, Absence of subcutaneous fat |
ORPHA:740 |
Alström Syndrome |
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Hypertriglyceridemia, Dorsocervical fat pad, Insulin resistance, Hyperlipidemia, Hyperinsulinemia... |
ORPHA:64 |
Pmm2-Cdg |
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Multiple joint contractures, Lipodystrophy, Insulin resistance, Reduced thyroxin-binding globulin... |
ORPHA:79318 |