Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist... |
ORPHA:2398 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista... |
ORPHA:79085 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity, Overgrowth, Polyphagia |
OMIM:620195 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Pol... |
ORPHA:329249 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435660 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... |
ORPHA:276580 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... |
OMIM:615238 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... |
ORPHA:276575 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Ataxia, Reduced intraabdominal ... |
ORPHA:363400 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... |
OMIM:612526 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity |
OMIM:615703 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... |
OMIM:613877 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent pneumonia, Obesity, Hypogonadism, Polyphagia |
OMIM:614962 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, D... |
OMIM:610717 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... |
ORPHA:263455 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ketotic hypoglycemia, Lethargy, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne... |
ORPHA:36238 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... |
OMIM:619386 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestat... |
ORPHA:79644 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Apnea,... |
OMIM:619048 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ta... |
ORPHA:2849 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Neonatal a... |
ORPHA:79237 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... |
ORPHA:79083 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Decreased response... |
OMIM:610978 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... |
OMIM:246200 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Respiratory arrest, Tachypnea, Hepatocellular necrosis, Pe... |
OMIM:201475 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Increase... |
OMIM:232700 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Bradykinesia, Gai... |
ORPHA:399 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Hypoglycemia, Episodic tachypnea, Small for gestational age, Decre... |
OMIM:615160 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Gait disturbance |
OMIM:618400 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea, Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Cachexia, Distal arthrogryposi... |
ORPHA:42 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... |
OMIM:613327 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Apnea, Elevated circulating alanine aminotransferase concentration, I... |
OMIM:261680 |
Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... |
ORPHA:1227 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:261229 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory arrest, Macrovesicular hepatic steatosis... |
OMIM:600649 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Essential Fructosuria |
|
Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Inability to walk, Tongue thrust... |
ORPHA:3095 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo... |
ORPHA:73272 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... |
OMIM:300148 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Apnea, Tachypnea, Lethargy, Failure to thrive, Pancreatitis |
OMIM:606054 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... |
OMIM:203800 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Tachypnea, Weight loss, Agitation, Cough, Oral aver... |
ORPHA:134 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Small for gestational age, Epi... |
ORPHA:26793 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Hypog... |
OMIM:615547 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... |
ORPHA:94086 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,... |
ORPHA:71212 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Re... |
OMIM:214150 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Rett Syndrome |
|
Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Increased serum leptin, Difficu... |
ORPHA:778 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Dyspnea, Tachypnea, Choreoathetosis, Multiple lipomas, Gait disturbance, Lethargy |
ORPHA:765 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age |
ORPHA:439167 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Respiratory failure, Decreased liver function, Dysphagia, Failure to t... |
ORPHA:70472 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypoglycemia, Episodic tachypn... |
ORPHA:348 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, He... |
ORPHA:369 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Anorexia, Tachypnea, Weight loss, Lethargy |
ORPHA:79242 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit... |
ORPHA:210548 |
Whipple Disease |
|
Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Respiratory insuffici... |
ORPHA:3452 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... |
ORPHA:300536 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to... |
OMIM:606407 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis |
OMIM:201450 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Hepatocellular nec... |
OMIM:256810 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Apnea, Acute hepatic steatosis, Lethargy, Failure to thrive |
OMIM:210200 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
High Altitude Pulmonary Edema |
|
Orthopnea, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w... |
OMIM:614450 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... |
ORPHA:398079 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,... |
ORPHA:20 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory fai... |
OMIM:614299 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... |
ORPHA:525731 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Citrullinemia Type I |
|
Ataxia, Tachypnea, Hepatic failure, Lethargy, Failure to thrive |
ORPHA:247525 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... |
ORPHA:101330 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... |
OMIM:300942 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Squalene Synthase Deficiency |
|
Hypospadias, Increased circulating farnesol concentration, Decreased LDL cholesterol concentratio... |
OMIM:618156 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa... |
OMIM:602579 |
Mehmo Syndrome |
|
Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Insulin resistance, Dysmetria, Trun... |
OMIM:616541 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:178320 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue |
ORPHA:199276 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy, Failure t... |
OMIM:615838 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiorespiratory arrest, Lethargy, He... |
OMIM:212138 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... |
ORPHA:2959 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F... |
ORPHA:398069 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tachypnea, Elevated circulating... |
OMIM:239200 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Lethargy, Tachypnea, Hypothyroidism |
ORPHA:3282 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Asthma, Biliary tr... |
OMIM:209900 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Micropenis, Hypocholesterolemia |
OMIM:618810 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Camptodactyly of finger, Tachypnea, Respiratory failure, Failure to th... |
OMIM:604320 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Ataxia, Decreased cir... |
ORPHA:453533 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Small for gestational age, Maternal diabetes, Tachypnea, Hypoxemia, Failure to thrive |
ORPHA:860 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Leth... |
ORPHA:2089 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis, Obesity |
OMIM:615996 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen... |
ORPHA:264580 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Tachypnea, Pulmonary arterial hypertension, Lethargy, Failure to thrive |
OMIM:614857 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Obesity, Type II diabetes ... |
ORPHA:91 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:278000 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... |
ORPHA:454836 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Loss of ambulation, Abnormal repetiti... |
ORPHA:79264 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Restrictive ventilatory def... |
OMIM:619013 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... |
OMIM:231530 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... |
OMIM:618805 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Respiratory insufficiency, Respira... |
ORPHA:746 |
Werner Syndrome |
|
Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes... |
ORPHA:902 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Dyspnea, Insulin resistance, Hyperinsulinemia, Rhinitis |
ORPHA:230 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure |
ORPHA:890 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Monosomy 13Q34 |
|
Epistaxis, Insulin resistance, Hepatic steatosis, Obesity |
ORPHA:96168 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Bangstad Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Pr... |
OMIM:210740 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Prader-Willi Syndrome |
|
Hypoventilation, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
OMIM:176270 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Tachypnea, Tip-toe gait, Compulsive behaviors, Abno... |
ORPHA:3008 |
48,Xxyy Syndrome |
|
Inguinal hernia, Hypergonadotropic hypogonadism, Ataxia, Abnormal dental enamel morphology, Apnea... |
ORPHA:10 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... |
ORPHA:247585 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... |
ORPHA:813 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Neonatal respiratory distre... |
OMIM:608836 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Biliary tract abnormality, Obesity, Respiratory insufficiency, Type II diabetes ... |
ORPHA:3191 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Precocious puberty in females, Ataxia, Aggressive behavior, Inab... |
ORPHA:72 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Pneumothorax, Choreoathetosis, Respiratory fail... |
ORPHA:445038 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Overweight, Repetitive compulsive behavior, Flexion contracture, Attention def... |
ORPHA:391372 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con... |
OMIM:616263 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Apnea, Episodic tachypnea |
OMIM:612285 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... |
OMIM:613658 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Recurren... |
ORPHA:444490 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Tru... |
OMIM:220110 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Apnea, F... |
OMIM:609069 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Apnea, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffli... |
OMIM:300055 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Gait disturbance, Decreas... |
ORPHA:436271 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... |
ORPHA:508 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia |
ORPHA:163961 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia |
ORPHA:397941 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Restrictive ventilatory defect, Diffi... |
ORPHA:369840 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Hepatic steatosis |
ORPHA:412 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necros... |
OMIM:231680 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... |
OMIM:616222 |
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 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance |
OMIM:604484 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hypoglycemia, Microvesicu... |
OMIM:617156 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti... |
OMIM:610921 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... |
ORPHA:541423 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development |
OMIM:610628 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Flexion contracture, Recurrent pneumonia, Choreoathetosis, Hepatic ... |
OMIM:616271 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Salt craving, Maternal diabetes, Insulin resistan... |
ORPHA:358 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... |
ORPHA:98908 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Elevated circulating thyroid-stimulating hormone... |
ORPHA:226313 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Umbilical hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic t... |
ORPHA:2872 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Pneumonia, Adipose tissue loss, Insulin resistance,... |
ORPHA:125 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice, Tachypnea, Hypoglycemia |
OMIM:615751 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... |
ORPHA:228305 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hyperactivity, Precocious puberty, Obesity, Self-injurious behavior, Arthrogry... |
ORPHA:254346 |
Atelis Syndrome 2 |
|
Dyspnea, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmet... |
OMIM:620185 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hepatosplenomegaly, Knee flexion contracture... |
ORPHA:79322 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Respiratory paralysis, Adrenocortical adenoma, Increased intramyocell... |
ORPHA:681 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... |
OMIM:613027 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Cholera |
|
Hypoglycemia, Tachypnea, Aspiration pneumonia, Lethargy, Hyperventilation |
ORPHA:173 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevat... |
ORPHA:1329 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Respiratory failure, Bile... |
OMIM:618329 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
Necrotizing Enterocolitis |
|
Small for gestational age, Apnea, Peritonitis, Abnormal glucose homeostasis, Lethargy, Hyperglycemia |
ORPHA:391673 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Poly... |
ORPHA:95427 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste... |
OMIM:610198 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity |
OMIM:615812 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Generalized lipodystrophy, Insulin resistance, Delayed puberty |
ORPHA:90154 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec... |
ORPHA:96180 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypoglycemia, Apnea, Aggressiv... |
ORPHA:17 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Small for gestational age |
OMIM:613320 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... |
OMIM:175700 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Luscan-Lumish Syndrome |
|
Polyphagia, Overgrowth, Obesity, Aggressive behavior |
OMIM:616831 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Abnormality of the hypothalamus-pituitary axis, Ataxia, Apnea |
ORPHA:2318 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Atypical Werner Syndrome |
|
Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins... |
ORPHA:79474 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia |
ORPHA:3299 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Microvesicular hepati... |
OMIM:619418 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Ataxia, Microvesicular hepatic steatosis, Repetitive compulsive be... |
ORPHA:66634 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Apnea, Splenomegaly, Tachypnea, Lethargy |
OMIM:253260 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Joubert Syndrome |
|
Ataxia, Episodic tachypnea, Apnea, Gait disturbance, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:475 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... |
ORPHA:79303 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity |
ORPHA:589905 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Failure to thrive,... |
ORPHA:99901 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Hepatitis, Progressive... |
ORPHA:415 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Cimdag Syndrome |
|
Hepatomegaly, Ataxia, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatiti... |
OMIM:236200 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hepatic steatosis, Weakness of muscles of respiration |
ORPHA:52430 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty |
ORPHA:251004 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... |
OMIM:616026 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Ataxia, Small for gestational age, Microvesicular hepatic steatosi... |
OMIM:220111 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Renal cyst, Steatorrhea, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, ... |
OMIM:212065 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta... |
ORPHA:440713 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion |
ORPHA:542323 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Pulmonary arterial hypertension, Bulimia, Obesity |
OMIM:614651 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Tachypnea, Cough, Lethargy, Failure to thrive |
ORPHA:137675 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... |
ORPHA:93111 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... |
OMIM:619487 |
Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin... |
OMIM:182290 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Intermittent hyperventilation, Aggressive behavior, Precocio... |
ORPHA:163681 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Respiratory failure, Decreased liver function, Lethargy, Hepatic steatosis |
OMIM:614922 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, P... |
ORPHA:60025 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Micronodular cirrhosis, Obesity, Increased i... |
ORPHA:98907 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Tenorio Syndrome |
|
Apnea, Hypoglycemia, Recurrent pneumonia, Gait disturbance, Hypoinsulinemia |
OMIM:616260 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Lower-limb ... |
ORPHA:99885 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Tachypnea, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive |
OMIM:615453 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Thalidomide Embryopathy |
|
Insulin resistance, Chronic rhinitis |
ORPHA:3312 |
Joubert Syndrome 1 |
|
Central apnea, Hyperactivity, Ataxia, Episodic tachypnea, Aggressive behavior, Hepatic fibrosis, ... |
OMIM:213300 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Pancreatic fi... |
ORPHA:699 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Pneumonia, Peritonitis, Tachypnea, Hepatitis, Cellulitis |
ORPHA:36234 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ... |
OMIM:156200 |
Serotonin Syndrome |
|
Restlessness, Hepatic failure, Agitation, Tachypnea |
ORPHA:43116 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis |
OMIM:243910 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicular hepatic steatosi... |
OMIM:124000 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Adnp Syndrome |
|
Respiratory distress, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Aspiration... |
ORPHA:404448 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... |
OMIM:614300 |
Peripartum Cardiomyopathy |
|
Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Obesi... |
ORPHA:563 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Small for gestational age, Tach... |
ORPHA:555874 |
Bloom Syndrome |
|
Small for gestational age, Bronchiectasis, Type II diabetes mellitus, Hepatic steatosis, Chronic ... |
OMIM:210900 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Tachypnea, Hyperventilation |
OMIM:253270 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular a... |
ORPHA:79240 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis |
ORPHA:79324 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... |
OMIM:219090 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficiency, Hepatosplen... |
OMIM:618278 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Letha... |
OMIM:229600 |
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 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Epistaxis, Hypothyroidism, Delayed puberty, Hepato... |
ORPHA:79259 |
Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Ataxia, Elevated circulating aspartate aminotransferase concent... |
ORPHA:466677 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Hepatic calcification, Hepatic failure, Hepatic stea... |
ORPHA:228308 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture |
ORPHA:90153 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneumoni... |
ORPHA:397715 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Tachypnea |
OMIM:615934 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Overweight, Asthma, Flexion contracture, Obsessive-compulsive t... |
ORPHA:500055 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation |
ORPHA:251028 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... |
OMIM:300972 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Ethylene Glycol Poisoning |
|
Ataxia, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of resp... |
ORPHA:31826 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Hy... |
OMIM:615300 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, D... |
ORPHA:404454 |
Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Elevated hepatic iron concentration, Cough, Pancreatic hypoplasia, Hepatic s... |
OMIM:619991 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
Sotos Syndrome |
|
Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent... |
OMIM:117550 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Decreased serum leptin, Dyspnea, Flexion contracture, Pulmonary arterial hypertensio... |
OMIM:614008 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Hypothyroidism, Addictive alcohol use |
ORPHA:90065 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibr... |
OMIM:619377 |
Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Failure to thrive, Neonatal breathing dysregulation |
OMIM:608091 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Inability to walk, Flexion contracture, Recurre... |
OMIM:617303 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Weaver Syndrome |
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Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... |
OMIM:277590 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Upp... |
ORPHA:740 |
Fanconi-Bickel Syndrome |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... |
OMIM:227810 |
Atrial Septal Defect, Ostium Primum Type |
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Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... |
ORPHA:99106 |
Chromosome 22Q13 Duplication Syndrome |
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Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Inability to walk, Athetosis,... |
OMIM:615356 |
Septo-Optic Dysplasia Spectrum |
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Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... |
ORPHA:3157 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Immunodeficiency 40 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
D-Bifunctional Protein Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Restrictive behavi... |
OMIM:619475 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Overweight, Type II diabetes mellitus |
ORPHA:401923 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Abnormal repetitive mannerism... |
ORPHA:1606 |
Orofaciodigital Syndrome Type 6 |
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Ataxia, Episodic tachypnea, Apnea, Gait disturbance, Failure to thrive |
ORPHA:2754 |
Cole Disease |
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Hyperglycemia |
OMIM:615522 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
Dubowitz Syndrome |
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Hypospadias, Hypocholesterolemia |
OMIM:223370 |
Rh Deficiency Syndrome |
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Hypoxemia, Jaundice, Tachypnea, Hepatosplenomegaly |
ORPHA:71275 |
Cocaine Intoxication |
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Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation |
ORPHA:90068 |
Lysosomal Acid Lipase Deficiency |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Adrenal calcifi... |
ORPHA:275761 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... |
ORPHA:96253 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Smith-Lemli-Opitz Syndrome |
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Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Ren... |
OMIM:270400 |
Digeorge Syndrome |
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Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Hy... |
OMIM:203700 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth... |
OMIM:300868 |
Joubert Syndrome 8 |
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Hepatomegaly, Ataxia, Obesity, Prolonged neonatal jaundice, Hyperventilation |
OMIM:612291 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Respiratory distress, Multiple joint contractures, Hypogonadotropi... |
ORPHA:79318 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... |
OMIM:600001 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Joubert Syndrome 5 |
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Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Neonatal breathing dysregulation |
OMIM:610188 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion c... |
OMIM:619503 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Ogden Syndrome |
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Inguinal hernia, Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Aspiration... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Asthma, Recurrent pneumonia, Po... |
OMIM:620330 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Precocious puberty, Asthma, Obesity, Type I diabetes mellitus, Dentinogenesis imperfecta |
OMIM:619269 |
Thyrotoxic Periodic Paralysis |
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Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Malignant Hyperthermia Of Anesthesia |
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Acute hepatic failure, Tachypnea, Hypercapnia |
ORPHA:423 |
Exercise-Induced Malignant Hyperthermia |
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Ataxia, Crackles, Tachypnea, Decreased liver function, Hypocapnia, Lethargy, Hepatic failure |
ORPHA:466650 |
Wiedemann-Rautenstrauch Syndrome |
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Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re... |
ORPHA:3455 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Gluc... |
OMIM:619127 |
Gaisböck Syndrome |
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Diabetes mellitus, Overweight, Splenomegaly, Dyspnea, Obesity, Increased circulating renin level,... |
ORPHA:90041 |
Aicardi-Goutieres Syndrome 7 |
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Hepatomegaly, Pneumonia, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hepatic steatosis |
OMIM:615846 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:619573 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Meningioma |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Aggressive behavior, Polyphagia, Obesity, Congenital hypothyroidism, Cam... |
OMIM:607872 |
Perlman Syndrome |
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Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy... |
OMIM:267000 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Decreased response to growth hormone stimulation test, Asthma, Obesity, Aspiration pneumonia, Tra... |
ORPHA:444077 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis |
OMIM:619321 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... |
ORPHA:247598 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder |
OMIM:619934 |
Double Outlet Left Ventricle |
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Failure to thrive, Tachypnea |
ORPHA:3427 |
Goodpasture Syndrome |
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Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... |
OMIM:233450 |
Orofaciodigital Syndrome Type 2 |
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Tachypnea, Apnea |
ORPHA:2751 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Carney Complex |
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Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... |
ORPHA:1359 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Pneumonia, Lymphocytic interstitial pneumonia, Peritonitis, Bronchiectasis, Hyperinsul... |
ORPHA:2968 |
Truncus Arteriosus |
|
Tachypnea, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Hellp Syndrome |
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Elevated hepatic transaminase, Pleural effusion, Increased body weight |
ORPHA:244242 |
Homozygous Familial Hypercholesterolemia |
|
Dyspnea, Hepatic steatosis |
ORPHA:391665 |