Cramps, Familial Adolescent |
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Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
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Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Enterokinase Deficiency |
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Hypoproteinemia |
OMIM:226200 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Gastritis, Familial Giant Hypertrophic |
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Hypoproteinemia |
OMIM:137280 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
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Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Hypoproteinemia |
OMIM:221400 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Hypoproteinemia |
OMIM:207731 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp... |
ORPHA:90041 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Multiple Myeloma |
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Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency 43 |
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Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Pancreatic insufficiency, combined exocrine |
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Hypoproteinemia |
OMIM:260450 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia |
OMIM:619155 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Hypoproteinemia |
ORPHA:1116 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Nephrotic Syndrome, Type 1 |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Essential Fructosuria |
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Hyperglycemia |
ORPHA:2056 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Transient Neonatal Diabetes Mellitus |
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Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Lipodystrophy, Familial Partial, Type 3 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Mody |
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Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Familial Renal Glucosuria |
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Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Citrullinemia Type Ii |
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Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypoproteinemia |
ORPHA:2315 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:465508 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Short Syndrome |
|
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... |
ORPHA:79102 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... |
ORPHA:508 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... |
ORPHA:466677 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia |
ORPHA:440713 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... |
ORPHA:79474 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:220111 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |