Acid-Labile Subunit Deficiency |
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Insulin insensitivity, Reduced insulin like growth factor binding protein acid labile subunit con... |
OMIM:615961 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:232700 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Short stature, Hypoglycemia |
ORPHA:366 |
Tuberculosis |
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Fever, Fatigue, Weight loss |
ORPHA:3389 |
Pituitary Hormone Deficiency, Combined, 4 |
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Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia |
OMIM:262700 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Short Stature Due To Partial Ghr Deficiency |
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Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Isolated Growth Hormone Deficiency, Type Ia |
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Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Hypocalcemia, Autosomal Dominant 2 |
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Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Short stature, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela... |
OMIM:620211 |
Hemochromatosis, Neonatal |
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Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Spontaneous Periodic Hypothermia |
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Fatigue, Hypothermia |
ORPHA:29822 |
Undifferentiated Pleomorphic Sarcoma |
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Fever, Fatigue, Weight loss |
ORPHA:2023 |
Neonatal Hemochromatosis |
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Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Hypothermia, Growth delay, Neonatal death, Intrauterine growth retardation, Failure to thrive |
OMIM:245400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
ORPHA:369 |
Glycogen Storage Disease Ixb |
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Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Increased h... |
OMIM:261750 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
Primary Erythromelalgia |
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Hypothermia |
ORPHA:90026 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Riboflavin Deficiency |
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Hypothermia |
OMIM:615026 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Intrauterine growth retardation, Hypothermia |
OMIM:614654 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... |
ORPHA:293964 |
Glycogen Storage Disease Iii |
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Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
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Hypothermia |
OMIM:610006 |
Developmental And Epileptic Encephalopathy 78 |
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Hypothermia |
OMIM:618557 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P... |
ORPHA:2089 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... |
OMIM:615160 |
Idiopathic Congenital Hypothyroidism |
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Hypothermia |
ORPHA:95717 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
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Growth delay, Hypothermia |
ORPHA:168593 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Hypothermia, Large for gestational age |
ORPHA:226313 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
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Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Hypothermia |
OMIM:616501 |
Menkes Disease |
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Intrauterine growth retardation, Short stature, Hypothermia |
OMIM:309400 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
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Fever, Abnormality of temperature regulation, Short stature, Hypothermia, Obesity |
OMIM:618493 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Hypothermia |
OMIM:614498 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Growth delay, Sudden death, Hypothermia |
OMIM:608800 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... |
OMIM:618838 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Small for gestational age, Hypothermia, Overweight, Obesity, Pain |
ORPHA:26793 |
Timothy Syndrome |
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Sudden death, Hypothermia |
OMIM:601005 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Intrauterine growth retardation, Small for gestational age, Hypothermia |
OMIM:618775 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Congenital Isolated Acth Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
Propionic Acidemia |
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Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Fever, Fatigue, Hypothermia, Weight loss |
ORPHA:20 |
Familial Thyroid Dyshormonogenesis |
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Hypothermia |
ORPHA:95716 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Meningococcal Meningitis |
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Fever, Hypothermia |
ORPHA:33475 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism, Fever, Failure to thrive, Hypothermia |
ORPHA:255210 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Fatigue, Failure to thrive, Growth delay, Hypothermia |
ORPHA:90674 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Short stature |
ORPHA:31 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
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Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
Late-Onset Familial Hypoaldosteronism |
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Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556037 |
Mody |
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Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic keto... |
OMIM:262190 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Postnatal growth ret... |
OMIM:617093 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Growth delay, Failure to thrive, Hypothermia |
OMIM:251880 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Failure to thrive, Hypothermia |
OMIM:618329 |
Dopamine Beta-Hydroxylase Deficiency |
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Fatigue, Chest pain, Hypothermia |
ORPHA:230 |
Congenital Enterovirus Infection |
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Fever, Hypothermia |
ORPHA:292 |
Alexander Disease |
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Sudden cardiac death, Hypothermia, Bowel incontinence, Recurrent singultus, Failure to thrive |
ORPHA:58 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... |
ORPHA:79303 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Hypo... |
OMIM:616026 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Infantile Liver Failure Syndrome 2 |
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Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:264580 |
Neuroleptic Malignant Syndrome |
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Fever, Fatigue, Rigors, Urinary incontinence, Hypothermia |
ORPHA:94093 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hypothermia |
ORPHA:159 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Growth delay, Intrauterine growth retardation, Failure to thrive, Hypothermia |
ORPHA:79282 |
Glycogen Storage Disease Ia |
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Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
OMIM:232200 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Growth delay, Failure to thrive, Hypothermia |
ORPHA:17 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Fatigue, Pituitary dwarfism, Hypothermia, Overweight, Growth delay |
ORPHA:226307 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Temperature instability, Myalgia, Hypothermia |
ORPHA:99027 |
Genetic Transient Congenital Hypothyroidism |
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Hypothermia |
ORPHA:226316 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna... |
OMIM:227810 |
Methylmalonic Aciduria, Cblb Type |
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Decreased methylmalonyl-CoA mutase activity, Failure to thrive |
OMIM:251110 |
Polyendocrine-Polyneuropathy Syndrome |
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Short stature, Elevated hemoglobin A1c, Hypoglycemia, Postnatal growth retardation, Type I diabet... |
OMIM:616113 |
Tbck-Related Intellectual Disability Syndrome |
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Hypothermia |
ORPHA:488632 |
Klatskin Tumor |
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Fever, Abdominal pain, Fatigue, Weight loss |
ORPHA:99978 |
Ethylene Glycol Poisoning |
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Flank pain, Hypothermia |
ORPHA:31826 |
Menkes Disease |
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Fatigue, Intrauterine growth retardation, Hypothermia |
ORPHA:565 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Temperature instability, Intermittent hypothermia |
OMIM:608643 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Hypothermia |
ORPHA:90673 |
Methylmalonic Aciduria, Cbla Type |
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Decreased methylmalonyl-CoA mutase activity, Failure to thrive |
OMIM:251100 |
Orthostatic Hypotension 1 |
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Intermittent hypothermia |
OMIM:223360 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hypoglycemia, He... |
OMIM:232220 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Fever, Short stature, Hypothermia, Obesity, Delayed puberty |
ORPHA:293987 |
Marburg Hemorrhagic Fever |
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Fever, Back pain, Hypothermia, Abdominal pain, Arthralgia, Myalgia, Chills |
ORPHA:99826 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Pituitary Hormone Deficiency, Combined, 6 |
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Neonatal hypoglycemia, Short stature, Hyperbilirubinemia, Hypoglycemia |
OMIM:613986 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methylmalonyl-CoA mutase activity, Failure to thrive |
OMIM:277400 |
Sarcoidosis |
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Fever, Fatigue, Hypothermia, Weight loss, Chest pain |
ORPHA:797 |
Fumarase Deficiency |
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Failure to thrive, Decreased fumarate hydratase activity |
OMIM:606812 |
Friedreich Ataxia |
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Decreased pyruvate carboxylase activity |
OMIM:229300 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Growth delay, Hypothermia |
OMIM:218700 |
Occipital Horn Syndrome |
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Hypothermia |
ORPHA:198 |
Mitochondrial Myopathy With Lactic Acidosis |
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Fatigue |
OMIM:251950 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Hypothermia, Growth delay, Unexplained fevers, Tongue pain, Recurrent fever |
ORPHA:642 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Short stature, Recurrent singultus, Hypothermia |
ORPHA:438213 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... |
OMIM:232240 |
Friedreich Ataxia 2 |
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Decreased pyruvate carboxylase activity |
OMIM:601992 |