| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
OMIM:167755 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| 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 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... |
ORPHA:79084 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance |
ORPHA:140941 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypog... |
ORPHA:453533 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia |
OMIM:608600 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Secondary amenorrhea, Androgen insufficiency, Oligomenorrhea, Hypogonadotropic hypogonadism, Decr... |
OMIM:228300 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... |
OMIM:615703 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
| Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
| Cortisone Reductase Deficiency 2 |
|
Premature pubarche, Insulin resistance |
OMIM:614662 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset tr... |
ORPHA:71529 |
| Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolem... |
OMIM:610947 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hepatomegaly, Progressive psychomotor deterioration, Insulin resistance, Cognitive ... |
ORPHA:363400 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Hepatic steatos... |
OMIM:610717 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant d... |
ORPHA:280356 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Bradycardia, Hype... |
OMIM:619048 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance |
OMIM:606721 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Fasting hypoglycemia, Neonatal hypoglycemia, Lethargy, Polyphagia, Palpitations, Hyperin... |
ORPHA:324575 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... |
ORPHA:181393 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating... |
ORPHA:90301 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Diabetes m... |
OMIM:612526 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... |
OMIM:617182 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration |
OMIM:615924 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Meningioma |
|
Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Tr... |
ORPHA:2495 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... |
OMIM:604367 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... |
OMIM:615710 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessi... |
ORPHA:276556 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... |
OMIM:616516 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypo... |
ORPHA:276580 |
| Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kina... |
OMIM:212138 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
| Gordon Holmes Syndrome |
|
Dementia, Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia |
OMIM:212840 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogon... |
ORPHA:226307 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age |
OMIM:248100 |
| Acromegaloid Facial Appearance Syndrome |
|
Large for gestational age |
OMIM:102150 |
| Citrullinemia Type Ii |
|
Hyperlipidemia, Decreased body mass index, Irritability, Lethargy, Decreased HDL cholesterol conc... |
ORPHA:247585 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepati... |
ORPHA:79085 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia, Dementia, Memory impairment |
OMIM:604121 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Insulin resistance, Elevated... |
OMIM:613327 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Failure to thrive, Cardiomyopathy, Ketotic hypoglycemia, Elevated circulating acylcarni... |
ORPHA:26792 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Decreased circulating T4 level, Bradycardia, Elevated circulating th... |
ORPHA:95717 |
| Lipoyltransferase 1 Deficiency |
|
Dystonia, Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin, Decreased live... |
OMIM:616299 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lyso... |
OMIM:278000 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... |
OMIM:246200 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Insulin resistance, Fai... |
ORPHA:528 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Secondary amenorrhea, Decreased circulating free T4 level, Inappropriatel... |
OMIM:301033 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Atherosclerosis Susceptibility |
|
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Gait disturbance, Mildly elevated creatine kinase, Hepatic steatosis |
OMIM:618400 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Fail... |
OMIM:212140 |
| Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus |
OMIM:609069 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circu... |
OMIM:619386 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... |
ORPHA:179494 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Umbilical hernia, Incre... |
ORPHA:95716 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Failure to thrive, Progressive neurologic deterioration, ... |
ORPHA:70472 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:255120 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Hepatomegaly, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... |
ORPHA:42 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Primary gonadal insufficiency |
ORPHA:436182 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Increased circulating T4 level, Fasting hypoglycemia, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Increased LDL cholesterol co... |
ORPHA:98855 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Dysphagia, Dementia, Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellit... |
OMIM:609286 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance |
OMIM:617885 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... |
ORPHA:66628 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
| Primary Lipodystrophy |
|
Type II diabetes mellitus, Insulin resistance, Polycystic ovaries, Pancreatitis, Splenomegaly, Ci... |
ORPHA:90970 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Increased serum testosterone level, Fasting hypoglycemia, Typ... |
ORPHA:2298 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... |
ORPHA:276608 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Ventricular escape rhythm,... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Ventricular escape rhythm,... |
ORPHA:98853 |
| Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... |
OMIM:605361 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Ventricular arrhythmia, Increased adipose tissue around the neck, Abnormal atrioventricular condu... |
ORPHA:280365 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia, Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis,... |
OMIM:615381 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstru... |
ORPHA:69663 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Increased LDL cholester... |
ORPHA:98863 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hyperammonemia, Fasting ... |
ORPHA:71212 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79083 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Elevated hepatic transaminase |
OMIM:615395 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Cognitive impairment, Glucose intolerance, Postural hypotension with compensatory tac... |
ORPHA:369873 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Failure to thrive, Atrioventricular block, Glucose intolerance, Impaired glucose tolera... |
OMIM:614407 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dystonia, Dysphagia, Hepatomegaly, Diffuse hepatic steatosis, Irritability, Elevated hepatic tran... |
OMIM:264470 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Hyperlipidemia, Increased circulating cortisol level, Diabetes mellitus, Hyp... |
ORPHA:189439 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin ... |
ORPHA:2348 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Failure to thrive, Abnormal ci... |
ORPHA:90674 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Wolfram-Like Syndrome |
|
Glucose intolerance, Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insip... |
ORPHA:411590 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... |
OMIM:167800 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Bradycardia, Hyperalaninemia |
OMIM:614654 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Suicidal ideation, Cognitive impairment, Abnormality of the endocrine system, Hyper... |
ORPHA:77296 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia |
OMIM:616276 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated cir... |
ORPHA:264580 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... |
OMIM:262600 |
| Hemochromatosis Type 2 |
|
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Diabetes mellitus, Hyp... |
ORPHA:79230 |
| Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Nonketotic hypoglycemia, Polyphagia, Palp... |
ORPHA:97279 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity |
ORPHA:85288 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... |
ORPHA:370 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... |
OMIM:618805 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... |
ORPHA:75234 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... |
ORPHA:465508 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... |
ORPHA:369 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
| Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... |
ORPHA:71526 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Attention deficit hyperactivity disorder, Difficulty wal... |
OMIM:619191 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Fatal liver failure in infancy, Hypercholesterolemia, Ataxia, Hepat... |
ORPHA:263501 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia, Pulmonic stenosis, Atr... |
OMIM:616201 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Bradycardia, Large for gestati... |
ORPHA:226313 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... |
OMIM:600649 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
| Smith-Magenis Syndrome |
|
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abnormality of the th... |
OMIM:182290 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Umbilical hernia, Polyphagia, Tall stature, Insulin-resistant diabetes mellitus at ... |
OMIM:608594 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
| Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Aggressive behavior, Hypertriglyceridemia |
OMIM:618010 |
| Classic Galactosemia |
|
Secondary amenorrhea, Gait disturbance, Dystonia, Oligomenorrhea, Hypoglycemia, Decreased serum i... |
ORPHA:79239 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... |
OMIM:608189 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations |
ORPHA:488650 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrho... |
ORPHA:79086 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Decreased liver functi... |
OMIM:614300 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Bradycardia |
OMIM:617248 |
| Alstrom Syndrome |
|
Dilated cardiomyopathy, Hypertension, Hepatomegaly, Decreased HDL cholesterol concentration, Chro... |
OMIM:203800 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Umbilical hernia, Polyphagia, Tall stature, Insulin-re... |
OMIM:269700 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... |
OMIM:617156 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... |
ORPHA:90673 |
| Polyembryoma |
|
Increased serum testosterone level, Increased serum serotonin, Abnormality of the endocrine syste... |
ORPHA:180229 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis |
OMIM:617872 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
| African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... |
ORPHA:139507 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... |
ORPHA:99885 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... |
ORPHA:251623 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556037 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis, C... |
OMIM:618234 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Dementia, Cognitive impairment, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbum... |
OMIM:208920 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556030 |
| Boucher-Neuhauser Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Decreased circulating gonadotropin concentration |
OMIM:215470 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity |
OMIM:614962 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice |
ORPHA:676 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Ataxia, Unsteady gait, Obesity, Wolff-Parkinson-White syndrome |
OMIM:614947 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Familial Chylomicronemia Syndrome |
|
Dementia, Hyperlipidemia, Failure to thrive, Memory impairment, Recurrent pancreatitis, Jaundice,... |
ORPHA:444490 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Hyperglycemia, ST segment depression, Cognitive impai... |
ORPHA:90065 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Primary amenor... |
OMIM:614841 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Waddling gai... |
ORPHA:369840 |
| 19P13.12 Microdeletion Syndrome |
|
Mitral regurgitation, Hyperlipidemia, Self-injurious behavior, Aortic regurgitation, Arthrogrypos... |
ORPHA:254346 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose home... |
ORPHA:391673 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
| Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia |
ORPHA:681 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Fasting hyperinsulin... |
ORPHA:35878 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Decreased liver function, Elevated hepatic transa... |
OMIM:617397 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... |
OMIM:603471 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture |
OMIM:618815 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Orthostatic hypotension, Fai... |
OMIM:610600 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm... |
ORPHA:228305 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Dystonia, Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transami... |
OMIM:256810 |
| Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
| Juvenile Huntington Disease |
|
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-bas... |
ORPHA:248111 |
| Short Syndrome |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia |
OMIM:269880 |
| Wilson Disease |
|
Hepatomegaly, Failure to thrive, Aggressive behavior, Hepatitis, Weight loss, Acute hepatitis, Sp... |
ORPHA:905 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, El... |
OMIM:201475 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase |
OMIM:617093 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... |
ORPHA:79240 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance, Primary amenorrhea |
OMIM:615363 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hepatosplenome... |
ORPHA:247598 |
| Timothy Syndrome |
|
Hypoglycemia, Prolonged QT interval, Bradycardia, Hypothyroidism, Hypocalcemia |
OMIM:601005 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... |
OMIM:603552 |
| Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
| Hypersecretion Of Adrenal Androgens, Familial |
|
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche |
OMIM:145295 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletion of mitochondria... |
OMIM:251880 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Lack of facial subcutaneous fat, Small for gestational age, Elevated hepatic transaminase, Insuli... |
ORPHA:2959 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
| Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Cholestasis, Adre... |
OMIM:201400 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Flexion contracture, Inguinal hernia |
OMIM:614498 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty |
ORPHA:254531 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated hepatic transaminase, Failure to th... |
ORPHA:99901 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Intrahepatic cholestasis, Decreased serum insulin-like grow... |
OMIM:614921 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:608612 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... |
ORPHA:275761 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypot... |
OMIM:619013 |
| Neuroleptic Malignant Syndrome |
|
Hypernatremia, Pulmonary embolism, Elevated circulating alkaline phosphatase concentration, Anxie... |
ORPHA:94093 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
| Pediatric-Onset Graves Disease |
|
Increased circulating T4 level, Goiter, Splenomegaly, Sinus tachycardia, Irritability, Graves dis... |
ORPHA:525731 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Infertility, Hypoglycemia, Amenorrhea, Hypogonadotropic hypogonadism, P... |
ORPHA:95619 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... |
ORPHA:769 |
| Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed... |
ORPHA:633 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic f... |
ORPHA:156 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... |
OMIM:267700 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Mitral regurgitation,... |
ORPHA:746 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... |
OMIM:300635 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Hyperalaninemia, Elevated gamma-glu... |
OMIM:614582 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Polyphagia, Narcolepsy, Premature adrenarch... |
ORPHA:293987 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Neonatal hypoglycemia, Loss of ability to walk, Tip-toe gait, Abnormal enzyme/coenzy... |
ORPHA:565624 |
| Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Polyphagia, Hypoglycemic seizures, Hyperbilirubinemia, Gonadotropin defici... |
OMIM:609734 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Sheehan Syndrome |
|
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... |
ORPHA:91355 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Ataxia, Hypertriglyceridemia, Hypothyroidism, ... |
OMIM:617575 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Aggressive behavior, Inability to walk, Male hypogonadis... |
OMIM:300148 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
| Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Diabetes mellitus, Type I diabetes mellitus |
OMIM:557000 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hepatic steatosis, Waddling g... |
ORPHA:52430 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
| Smith-Magenis Syndrome |
|
Gait disturbance, Failure to thrive in infancy, Self-injurious behavior, Obesity, Hypercholestero... |
ORPHA:819 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... |
ORPHA:567983 |
| Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Steppage gait, Aggressive behavior, EEG with generalized epilepti... |
ORPHA:98818 |
| Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Cholestatic liver disease, Cholestasis, Portal hypertension, Postprandial hyperglycemia |
ORPHA:440713 |
| Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Goiter, Weight loss, Hyperactivity, Irritability, Congestive heart failure, Graves di... |
OMIM:275000 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... |
ORPHA:90793 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... |
OMIM:618620 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Elevated hep... |
OMIM:212065 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... |
ORPHA:158057 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... |
ORPHA:45452 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... |
OMIM:301045 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Adrenal insufficiency, Dementia, Aggressive behavior, Cognitive impairment, Hyp... |
ORPHA:43 |
| Glutamine Deficiency, Congenital |
|
Bradycardia, Hyperammonemia, Flexion contracture, Camptodactyly, Hypoglutaminemia |
OMIM:610015 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
| Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Hypertension, Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, Weight l... |
OMIM:619487 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Ataxia, Narcolepsy, Memory impairment |
ORPHA:314404 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dystonia, Hepatomegaly, Failure to thrive, Bradykinesia, Macrovesicular hepatic steatosis, Choles... |
OMIM:614924 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Tachycardia, Hyper... |
ORPHA:348 |
| Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... |
OMIM:232400 |
| Ddost-Cdg |
|
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... |
ORPHA:300536 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Hypoglycemia, Insulin resistance |
ORPHA:73272 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitatio... |
ORPHA:401923 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls |
ORPHA:2382 |
| Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
ORPHA:96184 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
| Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Increased serum testosterone level, Delayed puberty, Male ... |
ORPHA:99429 |
| African Trypanosomiasis |
|
Abnormal prolactin level, Myocarditis, Third degree atrioventricular block, Abnormality of renin-... |
ORPHA:3385 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Failure to thrive, Increased total bilirubin, Spleno... |
OMIM:603553 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Tetanus |
|
Hypertension, Dysphagia, Elevated circulating creatine kinase concentration, Bradycardia, Tachyca... |
ORPHA:3299 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Abcd Syndrome |
|
Large for gestational age |
OMIM:600501 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ant... |
OMIM:608836 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... |
ORPHA:470 |
| Niemann-Pick Disease Type C |
|
Apathy, Progressive gait ataxia, Progressive neurologic deterioration, Splenomegaly, Hepatospleno... |
ORPHA:646 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hepatomegaly, Hypoglycemia |
ORPHA:134 |
| Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Cardiom... |
ORPHA:98907 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Low pulse pressure, Lipodystrophy, Hy... |
ORPHA:86816 |
| Gaisböck Syndrome |
|
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Obesity, Hyperuricemia, Hyperc... |
ORPHA:90041 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Hyperhidros... |
ORPHA:813 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia |
ORPHA:2849 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality |
OMIM:239500 |
| Autism, Susceptibility To, 18 |
|
Overweight, Tall stature |
OMIM:615032 |
| Porphyria Cutanea Tarda |
|
Increased serum iron, Scarring, Elevated hepatic iron concentration, Portal inflammation, Corneal... |
ORPHA:101330 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:248370 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Hepatomegaly, Prolonged QT interval, Hypoketotic hypogly... |
ORPHA:26793 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Cognitive impairment, Hypoplasia of the ovary, Increased ci... |
OMIM:615300 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Dementia, Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hyperalaninemia, Cirrh... |
ORPHA:298 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... |
OMIM:201450 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Hype... |
OMIM:261600 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... |
OMIM:609425 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypertension, Hepatocellular ad... |
ORPHA:79259 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... |
ORPHA:98754 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
| Glycine Encephalopathy |
|
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Lethargy |
OMIM:605899 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... |
ORPHA:158061 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... |
ORPHA:439232 |
| Glossopharyngeal Neuralgia |
|
Syncope, Weight loss, Bradycardia, Oral-pharyngeal dysphagia, Anxiety, Jaw claudication |
ORPHA:221098 |
| Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Tricuspid regur... |
OMIM:300972 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... |
ORPHA:98793 |
| Rasmussen Subacute Encephalitis |
|
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... |
ORPHA:1929 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:613101 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Failure to thrive |
OMIM:618362 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... |
ORPHA:177904 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Prolonged QT interval, Noncompaction ca... |
OMIM:610198 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... |
OMIM:615830 |
| Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Broad-b... |
OMIM:614450 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Dysphagia, Subconjunctival hemorrhage, Fulminant hepatitis, Bradycardia, Ment... |
ORPHA:319213 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Cholecystitis, Car... |
ORPHA:98908 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... |
ORPHA:177901 |
| Atrial Standstill 2 |
|
Atrial standstill, Scarring, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Ab... |
OMIM:615745 |
| Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610489 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Aggressive behavior, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Tachycardia, Bradycardia, Splenomegaly, Decreased liver ... |
ORPHA:90051 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Dysphagia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercho... |
ORPHA:64753 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... |
ORPHA:228308 |
| Proximal Spinal Muscular Atrophy |
|
Dysphagia, Bradycardia, Knee flexion contracture, Inability to walk, Flexion contracture, Multipl... |
ORPHA:70 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration |
OMIM:614025 |
| Abetalipoproteinemia |
|
Hypotriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hepatic fibrosis, Dysm... |
ORPHA:14 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Reduced dihydropyrimidine dehydrogenase level, Lethargy |
OMIM:274270 |
| Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... |
ORPHA:79322 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, H... |
ORPHA:91 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Cardiac conduction abnormality, Diabetes mellitus, Oral-pharyngeal dyspha... |
ORPHA:273 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Increased body weight, Ja... |
ORPHA:890 |
| Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... |
ORPHA:398073 |
| Whipple Disease |
|
Hepatomegaly, Splenomegaly, Hypothyroidism, Insulin resistance |
ORPHA:3452 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Pulmonary arterial hypertension, Decreased serum iron, Overweight, Diabetes me... |
ORPHA:391372 |
| Rett Syndrome |
|
Dystonia, Gait disturbance, Failure to thrive, Bradykinesia, Hyperammonemia, Increased serum lept... |
ORPHA:778 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Inguinal hernia |
OMIM:619272 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Acholic stools, Biliary tract abnormality, Splenomegaly, Jaundice, ... |
ORPHA:1414 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Lipodystrophy, Panniculitis, Splenomegaly, Hypertriglyceridemia,... |
OMIM:617591 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Hepatic fibrosis, Insulin resistance, Hypogonadism, Nephrogenic diabete... |
OMIM:209900 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Apathy, Hyp... |
ORPHA:20 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Disproportionate tall stature, Hyperhomocystinemia, Tall stature, Failure to thrive, Pancreatitis... |
OMIM:236200 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Insulin resistance |
ORPHA:96168 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Infertility, Premature adrenarche, Decreas... |
ORPHA:739 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... |
OMIM:615438 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Hypoketotic hypog... |
OMIM:231530 |
| Pearson Syndrome |
|
Adrenal insufficiency, Cardiac conduction abnormality, Hypophosphatemia, Splenomegaly, Steatorrhe... |
ORPHA:699 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Elevated circulating creatine kinase concentration, Palpitations, Atr... |
OMIM:616812 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Inguinal hernia, Obesity, Bi... |
ORPHA:3191 |
| Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... |
OMIM:619418 |
| Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Diabetes mellitus, Hypothyroidism, Insulin resistance |
OMIM:616541 |
| Short Syndrome |
|
Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
| Marburg Hemorrhagic Fever |
|
Hypoglycemia, Hyperammonemia, Capillary leak, Jaundice, Hyperamylasemia, Lethargy, Pericarditis, ... |
ORPHA:99826 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Absent gallbladder, Patent ductus arteriosus, B... |
OMIM:600001 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Small for gestational age, Elevated circulating creatine kinase conc... |
OMIM:618775 |
| Cln5 Disease |
|
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Multifocal epileptiform disch... |
ORPHA:228360 |
| Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
| Prolactinoma |
|
