Obesity Due To Melanocortin 4 Receptor Deficiency |
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Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Akt2-Related Familial Partial Lipodystrophy |
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Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-r... |
ORPHA:79085 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Leptin Deficiency Or Dysfunction |
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Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
Obesity Due To Congenital Leptin Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Cidec-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Lipodystrophy, Familial Partial, Type 5 |
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Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Obesity Due To Sim1 Deficiency |
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Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Idiopathic Congenital Hypothyroidism |
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Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Riboflavin Deficiency |
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Hypoglycemia, Hypothermia |
OMIM:615026 |
Familial Thyroid Dyshormonogenesis |
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Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
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Hypoglycemia, Hypothermia |
OMIM:610006 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
Mody |
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Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Genetic Transient Congenital Hypothyroidism |
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Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Failure to thrive, Hypothermia, Pituitary hypothyroi... |
ORPHA:90674 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Failure to thrive, Hypoglycemia, Hypothermia |
OMIM:245400 |
Rett Syndrome |
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Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Primary Erythromelalgia |
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Hypothermia |
ORPHA:90026 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Atypical Werner Syndrome |
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Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins... |
ORPHA:79474 |
Timothy Syndrome |
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Hypothyroidism, Hypothermia, Hypoglycemia |
OMIM:601005 |
Developmental And Epileptic Encephalopathy 78 |
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Hypothermia |
OMIM:618557 |
Keppen-Lubinsky Syndrome |
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Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Spontaneous Periodic Hypothermia |
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Hypothermia |
ORPHA:29822 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Hypothermia |
OMIM:614654 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia |
ORPHA:230 |
Alexander Disease |
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Diabetes mellitus, Hypothermia, Precocious puberty, Self-injurious behavior, Dysphagia, Failure t... |
ORPHA:58 |
Nestor-Guillermo Progeria Syndrome |
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Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Meningococcal Meningitis |
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Hypothermia, Anorexia |
ORPHA:33475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Hypothermia |
OMIM:616501 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Nonketotic hypoglycemia, Hypothermia, Anorexia, Weight loss, Recurrent hypoglycemia |
ORPHA:20 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Small for gestational age, Hypothermia, Overweight, Obesity, Hypoketotic hypoglycemia |
ORPHA:26793 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
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Hypothermia |
ORPHA:168593 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Failure to thrive, Hypoglycemia, Hypothermia |
OMIM:618329 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
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Hip contracture, Elbow flexion contracture, Obesity, Hypothermia |
OMIM:618493 |
Orthostatic Hypotension 1 |
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Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration |
OMIM:223360 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, Failure to thrive |
ORPHA:17 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Failure to thrive, Hypoglycemia, Hypothermia |
OMIM:251880 |
Menkes Disease |
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Hypothermia |
OMIM:309400 |
Menkes Disease |
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Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, ... |
ORPHA:565 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Flexion contracture, Hypothermia, Dysphagia |
ORPHA:99027 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... |
ORPHA:740 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Small for gestational age, Hypothermia |
OMIM:618775 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Hypothermia |
OMIM:608800 |
Occipital Horn Syndrome |
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Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... |
ORPHA:198 |
Congenital Enterovirus Infection |
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Hypothermia |
ORPHA:292 |
Tbck-Related Intellectual Disability Syndrome |
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Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... |
ORPHA:488632 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Fasciitis, Impulsivity, Hypothermia, Corneal scarring, Atypical scarr... |
ORPHA:642 |
Ethylene Glycol Poisoning |
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Addictive alcohol use, Hypothermia |
ORPHA:31826 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Failure to thrive, Hypothermia, Dysphagia |
ORPHA:255210 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Failure to thrive, Hypoglycemia, Hypothermia |
ORPHA:79282 |
Neuroleptic Malignant Syndrome |
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Agitation, Hypothermia, Dysphagia |
ORPHA:94093 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormality of the anterior... |
ORPHA:438213 |
Marburg Hemorrhagic Fever |
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Hypoglycemia, Hypothermia, Anorexia, Aggressive behavior |
ORPHA:99826 |
Sarcoidosis |
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Hyperthyroidism, Diabetes insipidus, Scarring, Hypothermia, Weight loss, Abnormality of the adren... |
ORPHA:797 |