Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Ab... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia |
ORPHA:67046 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... |
ORPHA:453533 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia, Elevated circulating acylcarnitine concentration, Lethargy |
OMIM:615026 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive, Unsteady gait |
OMIM:610090 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Ata... |
ORPHA:363400 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... |
ORPHA:2126 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia, Lethargy |
OMIM:610006 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Li... |
ORPHA:528 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... |
ORPHA:79237 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity |
ORPHA:791 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... |
ORPHA:2089 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hor... |
ORPHA:95717 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Failure to thrive, Hyperalaninemia, Small for gestational age |
OMIM:614702 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hyp... |
OMIM:246700 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circula... |
ORPHA:79096 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Ataxia, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma car... |
ORPHA:2394 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... |
ORPHA:95716 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... |
OMIM:615160 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL ch... |
OMIM:616834 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... |
OMIM:212140 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia,... |
OMIM:618120 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism |
OMIM:617872 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Failure to thrive, Hypertaurinemia, Hypoglycemia, Hyperglycinemia |
OMIM:245400 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Decreased body weight, Dysmetria, Abetalipoproteinemia, Elevated circulating creatine kin... |
ORPHA:96180 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... |
OMIM:246200 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia, Gait disturbance |
OMIM:616260 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Bangstad Syndrome |
|
Ataxia, Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypothyroidism, Hypocholesterolemia, Oral-pharyngea... |
OMIM:610883 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... |
OMIM:614736 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased p... |
ORPHA:42 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulatin... |
ORPHA:90674 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypocalcemia, Hypoproteinemia, Small for gestational age, Hyperammonemia, Hypoketoti... |
ORPHA:26793 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestati... |
ORPHA:226313 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase co... |
OMIM:613327 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholester... |
OMIM:615558 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increas... |
ORPHA:90673 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... |
ORPHA:79086 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hyperammonemia, Elevated creatine ... |
ORPHA:159 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Failure to thrive, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia |
OMIM:251880 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Hypothermia, Ataxia |
ORPHA:29822 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... |
ORPHA:226316 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... |
OMIM:608594 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Diabetes mellitus, Hypergly... |
OMIM:609069 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Umbilical hernia, Hypothermia, D... |
ORPHA:226307 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia, Inability to walk |
OMIM:618557 |
Permanent Congenital Hypothyroidism |
|
Hypothermia, Thyroid dysgenesis, Hypothyroidism, Umbilical hernia, Goiter |
ORPHA:226292 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemi... |
OMIM:617575 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Dysmetria, Small for... |
OMIM:606721 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Failure to thrive, Acute hyperammonemia, Lethargy |
OMIM:210200 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Ataxia, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Dysm... |
OMIM:212065 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Maple Syrup Urine Disease |
|
Ataxia, Hypoglycemia, Elevated plasma branched chain amino acids, Elevated circulating L-alloisol... |
OMIM:248600 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... |
ORPHA:769 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... |
ORPHA:95496 |
Glutaric Acidemia I |
|
Hypoglycemia, Failure to thrive, Choreoathetosis, Elevated circulating glutaric acid concentration |
OMIM:231670 |
Alg12-Cdg |
|
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... |
ORPHA:79324 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Ataxia, Hyperammonemia, Nonketotic hypoglycemia, Hyperuricemia, Recurrent hypoglycem... |
ORPHA:20 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, Failure to thrive, Hypoglycemia, Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Increased circ... |
OMIM:131100 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating ... |
ORPHA:230 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Acute hyperammonemia, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine... |
OMIM:210210 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus, Hypouri... |
OMIM:616026 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypothermia, Inability to walk, Elbow flexion contracture, Unsteady gait, Obesity |
OMIM:618493 |
Alexander Disease |
|
Hypothermia, Failure to thrive, Precocious puberty, Ataxia, Hypothyroidism, Gait disturbance, Dia... |
ORPHA:58 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypothermia, Adrenocorticotropic hormone deficiency, Hyperlipidemia, Polydipsia, Decreased respon... |
ORPHA:293987 |
Abetalipoproteinemia |
|
Broad-based gait, Failure to thrive, Abnormal circulating apolipoprotein concentration, Ataxia, H... |
ORPHA:14 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia |
OMIM:613027 |
Leprechaunism |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... |
ORPHA:508 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... |
ORPHA:85138 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... |
OMIM:617049 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Failure to thrive, Ataxia, Hyperammonemia, Hypomethioninemia, Elevated circulating p... |
ORPHA:79282 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Lethargy, Hyperalaninemia, Hyperammonemia |
OMIM:615751 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Inter... |
OMIM:223360 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypothermia, Failure to thrive, Flexion contracture, Hypoglycemia, Choreoathetosis, Methylmalonic... |
ORPHA:17 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroi... |
OMIM:218700 |
Congenital Hypothyroidism |
|
Hypothermia, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypo... |
ORPHA:442 |
Atypical Werner Syndrome |
|
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Decreased body weigh... |
ORPHA:79474 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia, Ataxia, Dysmetria, Flexion contracture, Dysdiadochokinesis, Gait disturbance, Gait a... |
ORPHA:99027 |
Meningococcal Meningitis |
|
Hypothermia, Elevated circulating C-reactive protein concentration, Lethargy |
ORPHA:33475 |
Prader-Willi Syndrome |
|
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... |
OMIM:176270 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... |
ORPHA:3464 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypothermia, Failure to thrive, Ataxia, Low plasma citrulline, Gait ataxia, Dysphagia, Hyperalani... |
ORPHA:255210 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Elevated circulating creatine kinase concentration, Small for gestational age |
OMIM:618775 |
Menkes Disease |
|
Hypothermia, Decreased circulating ceruloplasmin concentration |
OMIM:309400 |
Menkes Disease |
|
Hypothermia, Inguinal hernia, Chondrocalcinosis, Hypoglycemia, Hernia, Umbilical hernia, Atypical... |
ORPHA:565 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... |
ORPHA:786 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Inability to walk, Central adrenal insufficiency, Hyperthyroidism, Abnormal circulat... |
ORPHA:488632 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Intermittent hypothermia, Athetosis, Choreoathetosis, Lethargy |
OMIM:608643 |
Congenital Enterovirus Infection |
|
Hypothermia, Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia... |
OMIM:229600 |
Neuroleptic Malignant Syndrome |
|
Hypothermia, Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Inguinal hernia |
OMIM:223370 |
Ethylene Glycol Poisoning |
|
Hypothermia, Ataxia, Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Marburg Hemorrhagic Fever |
|
Hypothermia, Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Hyp... |
ORPHA:99826 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Uterine prolapse, Hypothermia, Abnormality of the endocrine system, Precocious ... |
ORPHA:438213 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... |
ORPHA:90363 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:99226 |
Occipital Horn Syndrome |
|
Hypothermia, Hiatus hernia, Inguinal hernia, Keloids, Femoral hernia, Atypical scarring of skin, ... |
ORPHA:198 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Precocious puberty, Hypocholesterolemia, Hypoal... |
OMIM:270400 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Hypothermia, Difficulty walking, Fasciitis, Dysphagia, Atypical scarring of skin |
ORPHA:642 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Sarcoidosis |
|
Hypothermia, Hyperthyroidism, Abnormality of the adrenal glands, Hypothyroidism, Hypercalcemia, S... |
ORPHA:797 |
Pmm2-Cdg |
|
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... |
ORPHA:79318 |
Alström Syndrome |
|
Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Decre... |
ORPHA:64 |