| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hand tremor, ... |
ORPHA:79299 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Hyperlysinemia, Hypoglutaminemia, Tip-toe gait, Hyperammonemia, Increased serum pyruvate,... |
ORPHA:3008 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia, Decreased circulating cortisol level |
ORPHA:199296 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Dystonia |
OMIM:616113 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Hyponatremia |
OMIM:616949 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... |
ORPHA:324575 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... |
ORPHA:2457 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Increased circulating renin level, Hyponatremia,... |
OMIM:610600 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Oculogyric crisis, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Progressive cerebellar ataxia, Dystonia |
ORPHA:67046 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... |
ORPHA:26793 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration, Lethargy |
OMIM:615026 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Dystonia, Hyponatremia |
ORPHA:163921 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Ataxia, Hyponatremia |
OMIM:618426 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Central Diabetes Insipidus |
|
Lethargy, Hyponatremia |
ORPHA:178029 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatremia, Abnormal circul... |
ORPHA:556037 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Lethargy |
ORPHA:2089 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
| Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatremia, Abnormal circul... |
ORPHA:556030 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia, Diabetes mellitus |
OMIM:613845 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Ataxia, Hyperglycemia |
OMIM:618970 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Lethargy |
ORPHA:173 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Ataxia, Dystonia, Lethargy |
OMIM:246900 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, Hyponatremia, ... |
ORPHA:682 |
| Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Increased LDL cholesterol ... |
OMIM:267700 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia |
ORPHA:6 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis |
OMIM:618857 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hyper... |
ORPHA:199299 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia,... |
OMIM:618120 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walk... |
ORPHA:1667 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Lethargy, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures, Hyponatremia, ... |
ORPHA:361 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia, Decreased circulating cortisol level |
ORPHA:90790 |
| Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid concentration, Hypogl... |
OMIM:615160 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Carnitine Deficiency, Systemic Primary |
|
Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogenesis, Recurrent hyp... |
OMIM:212140 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, Elevated pl... |
ORPHA:2394 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Exaggerated startle response, Falls, Diabetes mellitus |
ORPHA:3198 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:610006 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Neonatal h... |
ORPHA:90791 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Lethargy, Hyperammonemia |
OMIM:616483 |
| Whipple Disease |
|
Insulin resistance, Ataxia, Hyponatremia |
ORPHA:3452 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Mirage Syndrome |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
| Alg8-Cdg |
|
Ataxia, Hyponatremia |
ORPHA:79325 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Hypertriglyceridemia, Incr... |
OMIM:603553 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Increased circulating renin level, Hypoglycemia, Hyponatrem... |
ORPHA:95409 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Lethargy, Hyperalaninemia, Hyperammonemia |
OMIM:615751 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:613090 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Hyponatremia |
ORPHA:293978 |
| Maple Syrup Urine Disease |
|
Ataxia, Hypoglycemia, Elevated plasma branched chain amino acids, Elevated circulating L-alloisol... |
OMIM:248600 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia, Lethargy |
ORPHA:156 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
| Pituitary Apoplexy |
|
Hypoglycemia, Hyponatremia, Increased circulating cortisol level |
ORPHA:95613 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, Elevated circulatin... |
ORPHA:411634 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Decreased plasma carnitine, Lethargy |
OMIM:201450 |
| Legionnaires Disease |
|
Ataxia, Hyponatremia |
ORPHA:549 |
| Addison Disease |
|
Decreased circulating cortisol level, Increased circulating renin level, Hypoglycemia, Type I dia... |
ORPHA:85138 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Acute hyperammonemia, Opisthotonus, Lethargy |
OMIM:210200 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... |
OMIM:618838 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia |
OMIM:619381 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:602522 |
| Alg12-Cdg |
|
Recurrent hypoglycemia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
| Japanese Encephalitis |
|
Opisthotonus, Pill-rolling tremor, Tremor, Choreoathetosis, Hyponatremia, Dystonia |
ORPHA:79139 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Tremor, Ataxia, Hyperglycemia |
OMIM:220111 |
| Glutaric Acidemia I |
|
Opisthotonus, Elevated circulating glutaric acid concentration, Hypoglycemia, Choreoathetosis, Dy... |
OMIM:231670 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Increased circulating renin level, Abnormal circulating cho... |
ORPHA:168558 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hypoproteinemia, Gait di... |
ORPHA:167 |
| Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... |
ORPHA:88673 |
| Shigellosis |
|
Hypoglycemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Sheehan Syndrome |
|
Hypoglycemia, Decreased circulating cortisol level, Hyponatremia |
ORPHA:91355 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Increased circulating renin level, Abnormal circulating cho... |
ORPHA:289548 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia |
OMIM:613027 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Opisthotonus, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyp... |
OMIM:210210 |
| Familial Dysautonomia |
|
Gait disturbance, Ataxia, Hyponatremia |
ORPHA:1764 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79473 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... |
ORPHA:2298 |
| Holoprosencephaly |
|
Hypoglycemia, Dystonia, Hyponatremia, Diabetes mellitus |
ORPHA:2162 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Glycosuria, Decreased pl... |
OMIM:219800 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:95512 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia |
OMIM:616026 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Type II diabetes mellitus, Hypoinsulinemia, Hypoglycemia, Dystonia |
ORPHA:453533 |
| Acute Intermittent Porphyria |
|
Tremor, Hyponatremia |
ORPHA:79276 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:95513 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hyperkalemia |
ORPHA:275761 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hyperaldosteronism,... |
ORPHA:89938 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... |
ORPHA:90038 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia, Diabetes mellitus |
ORPHA:544482 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperglycemia |
ORPHA:293987 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Diabetes mellitus |
OMIM:184850 |
| Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia, Lethargy |
OMIM:228100 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Elevated alpha-fetoprotein, Hyperammonemia |
OMIM:617049 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hyponatremia, Neonatal hypoglycemia, Hypochloremia, Hyperka... |
ORPHA:90794 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism |
ORPHA:534 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Hyperb... |
OMIM:619991 |
| Tay-Sachs Disease |
|
Inability to walk, Laryngeal dystonia, Dysmetria, Exaggerated startle response, Increased serum b... |
ORPHA:845 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:151660 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Dystonia, Ataxia, Exaggerated startle response |
ORPHA:438216 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Increased serum bile acid concentration, Hyponatremia |
ORPHA:731 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia, Hyperglycemia |
OMIM:615710 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricemia, Le... |
OMIM:229600 |
| Sandhoff Disease |
|
Ataxia, Exaggerated startle response |
OMIM:268800 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Inability to walk, Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Dystonia |
OMIM:617804 |
