| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... |
ORPHA:79299 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... |
ORPHA:71212 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Tip-toe gait, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyr... |
ORPHA:3008 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Exaggerated startle response, Hypernatremia, Dystonia, Hyperglycemia, Hypoglycemia, Hyperglycinem... |
OMIM:620423 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Decreased circulating cortisol level |
ORPHA:199296 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea |
OMIM:605911 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia |
OMIM:616949 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Dystonia, Progressive cerebellar ataxia |
ORPHA:67046 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
OMIM:614736 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... |
ORPHA:2457 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia |
OMIM:240800 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Tremor, Elevated circulating creati... |
ORPHA:94093 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Hypo... |
OMIM:610600 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... |
ORPHA:26793 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase, Hand tremor |
OMIM:604484 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia, Ataxia |
ORPHA:163921 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Lethargy |
OMIM:615026 |
| Central Diabetes Insipidus |
|
Hyponatremia, Lethargy |
ORPHA:178029 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Hypoglycemia, Increased circulating iron concentration |
ORPHA:446 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... |
OMIM:620211 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia |
OMIM:610768 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... |
ORPHA:556037 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Lethargy, Postprandial hyperglycemia |
ORPHA:2089 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... |
ORPHA:556030 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Dystonia, Ataxia, Hypoglycemia, Lethargy |
OMIM:246900 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level |
OMIM:177735 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus |
OMIM:613845 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism |
OMIM:264350 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia |
ORPHA:6 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Difficulty walking, Exaggerated startle response, Falls |
ORPHA:3198 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level |
OMIM:618856 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... |
ORPHA:682 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Athetosis |
OMIM:266150 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia, Lethargy |
ORPHA:173 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Lethargy, Abnormal glucose homeostasis |
ORPHA:391673 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... |
OMIM:615160 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoglycemia,... |
OMIM:618120 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Athetosis, Hyperglycemia |
OMIM:618857 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, T... |
ORPHA:199299 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:609812 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Wolcott-Rallison Syndrome |
|
Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal i... |
ORPHA:1667 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... |
ORPHA:99886 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Decreased circulating carnitine concentration, Hyperisoleucinemia, Hyperammonemia, Elevated circu... |
ORPHA:2394 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Glycosuria, Hyponatremia, Lethargy |
ORPHA:97362 |
| Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... |
OMIM:604367 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Decreased circulating co... |
ORPHA:361 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Glucocortocoid-insensitive primary... |
ORPHA:171876 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Lethargy, Increased circulating renin level |
ORPHA:427 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hyperaldosteronism |
OMIM:214700 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
ORPHA:90790 |
| Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Hypoglycemia, Lethargy |
OMIM:616483 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Hypoglycemia, Abnormality of iron homeostasis, Increase... |
OMIM:231100 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level, Hyponatremia, Decreased c... |
ORPHA:90791 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:610006 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum... |
OMIM:603553 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Alg8-Cdg |
|
Hyponatremia, Ataxia |
ORPHA:79325 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:617053 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
| Whipple Disease |
|
Insulin resistance, Hyponatremia, Ataxia |
ORPHA:3452 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased circulati... |
ORPHA:95409 |
| Mody |
|
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,... |
ORPHA:552 |
| Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating branched chain amino acid concentration, Elevated circulating L-alloisoleuci... |
OMIM:248600 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hypoglycemia, Lethargy |
ORPHA:156 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism |
OMIM:613090 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Dystonia, Ataxia, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:616113 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level |
OMIM:300200 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Tremor, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyponatremia, Dystoni... |
OMIM:610505 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Opisthotonus, Lethargy |
OMIM:210200 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Glycosuria, Hyponatremia, Hypophosphatemia, Hypocalcemic... |
ORPHA:411634 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Increased circulating cortisol level |
ORPHA:95613 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... |
OMIM:615812 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Legionnaires Disease |
|
Hyponatremia, Ataxia |
ORPHA:549 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Addison Disease |
|
Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatremia, Decre... |
ORPHA:85138 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Tremor, Hyponatremia, Dystonia, Opisthotonus, Choreoathetosis |
ORPHA:79139 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Recurrent hypoglycemia |
ORPHA:293978 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Recurrent hypoglycemia |
ORPHA:79324 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Decreased circulating carnitine concentration, Hyperleucinemia, Hyperammonemia, Acute hyperammone... |
OMIM:210210 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia |
OMIM:617913 |
| Shigellosis |
|
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia |
ORPHA:810 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:289548 |
| Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
ORPHA:91355 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Familial Dysautonomia |
|
Hyponatremia, Ataxia, Gait disturbance |
ORPHA:1764 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hypoglyce... |
OMIM:620451 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Inability to walk, Hypoproteinemia, Tremor, Gait disturbance, Hyponatremia,... |
ORPHA:167 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus |
OMIM:616026 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95512 |
| Stiff-Person Syndrome |
|
Diabetes mellitus, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... |
ORPHA:2298 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... |
OMIM:219800 |
| Holoprosencephaly |
|
Hyponatremia, Hypoglycemia, Diabetes mellitus, Dystonia |
ORPHA:2162 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95513 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Tremor |
ORPHA:79276 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism |
OMIM:602522 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Ataxia, Hypokalemia |
OMIM:618426 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia, Hype... |
ORPHA:89938 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria |
OMIM:618056 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus |
ORPHA:544482 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperlipidemia, Hyponatremia, Hyperglycemia |
ORPHA:293987 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Exaggerated startle response |
OMIM:616881 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Tay-Sachs Disease |
|
Inability to walk, Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Gai... |
ORPHA:845 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Hyponatremia, Decreased circulating cortisol ... |
ORPHA:90794 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Liver Disease, Severe Congenital |
|
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... |
OMIM:619991 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hyponatremia, D... |
OMIM:201750 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Sandhoff Disease |
|
Ataxia, Exaggerated startle response |
OMIM:268800 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Asparagine Synthetase Deficiency |
|
Tremor, Hypoasparaginemia, 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 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Inability to walk, Broad-based gait, Exaggerated startle response, Dystonia, Decreased circulatin... |
ORPHA:438213 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Dystonia, Ataxia, Inability to walk |
OMIM:617804 |
