| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increased intraabdom... |
ORPHA:79085 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... |
ORPHA:435660 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Ectopia lentis |
OMIM:238700 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystrophy, Hypertri... |
OMIM:615238 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystroph... |
ORPHA:435651 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Hyp... |
ORPHA:181393 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Lipodystrophy, Hype... |
OMIM:612526 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival icterus, Hypoalbum... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival icterus, Hypoalbum... |
ORPHA:529808 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance |
OMIM:617885 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Decre... |
ORPHA:280365 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... |
ORPHA:324575 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... |
ORPHA:363400 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, ... |
OMIM:606762 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... |
OMIM:611590 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia |
OMIM:613845 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Flexion contracture, Lipodystrophy, Hypogonadism, Insulin resistance, Diabetes mellitus |
OMIM:615381 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged kidney, Insulin-r... |
ORPHA:90301 |
| Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:233805 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Lipodystrophy, Hypert... |
ORPHA:528 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
| Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... |
ORPHA:2298 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipoatrophy, Pancreatitis, Splenomegaly, Polycystic ovaries, Cirrhosis, Maternal di... |
ORPHA:79083 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Cellulitis, Lipodystrophy, Diabetes mellitus, Insulin resistance, Loss of subcutaneo... |
ORPHA:2348 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Primary Lipodystrophy |
|
Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Splenomegaly, Polycystic ovaries, Cirrhosis... |
ORPHA:90970 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Macroorchidism, Oligospermia |
ORPHA:3000 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... |
ORPHA:3008 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Abnormal erythro... |
ORPHA:100924 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
| Placental Insufficiency |
|
Insulin resistance, Hypoxemia |
ORPHA:439167 |
| Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... |
ORPHA:811 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1930 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... |
ORPHA:26793 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
| Megalencephaly |
|
Atrial septal defect, Macroorchidism, Long penis |
ORPHA:2477 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... |
ORPHA:79086 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
| Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... |
ORPHA:90041 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Developm... |
ORPHA:124 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia |
ORPHA:89938 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... |
ORPHA:3163 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Alg8-Cdg |
|
Anemia, Thrombocytopenia, Cataract, Hyponatremia |
ORPHA:79325 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... |
ORPHA:2126 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contracture, Art... |
OMIM:214150 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Neonatal hyperbilirubinemia, Hypogonadism, Insulin resistance |
ORPHA:73272 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... |
ORPHA:769 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Astigmatism |
ORPHA:261250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombocytopenia, Hyperkalemia |
OMIM:617053 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... |
OMIM:241200 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
| Retinitis Pigmentosa |
|
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Macroorchidism |
ORPHA:908 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance |
ORPHA:90154 |
| Shigellosis |
|
Splenic abscess, Corneal ulceration, Leukocytosis, Abscess, Abnormal blood ion concentration, Hyp... |
ORPHA:810 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ... |
OMIM:608612 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia |
ORPHA:6 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola... |
ORPHA:167 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism |
ORPHA:776 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Aromatase Deficiency |
|
Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Macroorch... |
ORPHA:91 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
| Werner Syndrome |
|
Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Chondrocalcinosis, Lipodystrophy, Hypo... |
ORPHA:902 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Elevated circulating creatine kinase concentration, Lipodystrophy, Hypertriglyc... |
OMIM:613327 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
| Hemochromatosis, Type 1 |
|
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadis... |
OMIM:235200 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Hyperg... |
ORPHA:79237 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hypochloremia, Hyponatremia |
ORPHA:90794 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid concentration, Hypogl... |
OMIM:615160 |
| Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... |
ORPHA:91349 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Primary adrenal insufficiency, Hypogonadism |
OMIM:617872 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... |
ORPHA:8 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Legionnaires Disease |
|
Lymphopenia, Hyponatremia, Splenomegaly |
ORPHA:549 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Hyponatremia, Mydriasis |
ORPHA:178478 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
| Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Abnormality of male external genitalia, Hypospadi... |
ORPHA:813 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79473 |
| Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hyperuricemia, Hypercalcemia |
ORPHA:199299 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Whipple Disease |
|
Anemia, Hyponatremia, Splenomegaly |
ORPHA:3452 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
| Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology |
ORPHA:293978 |
| Carnitine Deficiency, Systemic Primary |
|
Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogenesis, Recurrent hyp... |
OMIM:212140 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Abnormal circulating lipid concentration, Hypothyroidism, Diabetes mellitus |
OMIM:616541 |
| Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
| Pituitary Apoplexy |
|
Normochromic anemia, Hyponatremia, Mydriasis |
ORPHA:95613 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Elevated circulating growth hormone concentration, Pancreatitis, Ovarian cyst... |
ORPHA:562 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Corneal crystals, Hypoca... |
ORPHA:411634 |
| Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyponatremia, Heterochromia iridis |
ORPHA:1764 |
| Bangstad Syndrome |
|
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
OMIM:210740 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyponatremia, Hyp... |
ORPHA:88673 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Leprechaunism |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hypokalemia, I... |
ORPHA:508 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:95409 |
| Monosomy 13Q34 |
|
Insulin resistance, Infantile hypercalcemia |
ORPHA:96168 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circu... |
OMIM:201400 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia |
OMIM:261680 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Macroorchidism |
ORPHA:85327 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Adenohypophysitis |
|
Normochromic anemia, Hyponatremia |
ORPHA:95512 |
| Bardet-Biedl Syndrome 1 |
|
Vaginal atresia, Micropenis, Left ventricular hypertrophy, Biliary tract abnormality, Hepatic fib... |
OMIM:209900 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... |
OMIM:618838 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
| Polyembryoma |
|
Abnormality of the peritoneum, Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Hypertriglyceridemia, Hyponatremia, Hypercholesterole... |
ORPHA:275761 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a... |
OMIM:606721 |
| Panhypophysitis |
|
Normochromic anemia, Hyponatremia |
ORPHA:95513 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Alg12-Cdg |
|
B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Thrombocytopenia |
ORPHA:79324 |
| Addison Disease |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:85138 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Atrial septal defect, Macroorchidism |
OMIM:309520 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Leukocytosis, Brain abscess, Hemolytic anemia, Hyponatremia, Thrombocytopenia, Hype... |
ORPHA:544482 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
| Gitelman Syndrome |
|
Glucose intolerance, Hypomagnesemia, Type II diabetes mellitus, Graves disease, Hypokalemia, Para... |
ORPHA:358 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse, Hypospadias, Macroorchidism |
OMIM:618874 |
| Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Elevated circulating C-reactive prot... |
ORPHA:160 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Insulin resistance, Fa... |
ORPHA:96182 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Dilated cardiomyopathy,... |
OMIM:600649 |
| Trisomy 20P |
|
Hypospadias, Cryptorchidism, Macroorchidism |
ORPHA:261318 |
| Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Brain a... |
ORPHA:97214 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia |
OMIM:613027 |
| Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
| Sheehan Syndrome |
|
Normochromic anemia, Hyponatremia |
ORPHA:91355 |
| X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Corneal opacity, Hypophosphatemia, Abnormal pupil morphology, Hypokalemia, Buphthalmos, Hypoammon... |
ORPHA:534 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... |
OMIM:608594 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Bloom Syndrome |
|
Insulin resistance, Adipose tissue loss, Diabetes mellitus |
ORPHA:125 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Splenomegaly, Recurrent ... |
OMIM:219800 |
| Pituitary Stalk Interruption Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... |
ORPHA:95496 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
| Japanese Encephalitis |
|
Neutrophilia, Hyponatremia |
ORPHA:79139 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia |
OMIM:616026 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Iris nevus, Anterior chamber flare, Normoc... |
ORPHA:91500 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen |
ORPHA:89844 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... |
OMIM:618839 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... |
ORPHA:90674 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
| Holoprosencephaly |
|
Iris coloboma, Abnormality of the spleen, Hyponatremia |
ORPHA:2162 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperalaninemia, Hyperammonemia |
OMIM:615751 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
| Carney Complex |
|
Pituitary growth hormone cell adenoma, Ovarian cyst, Increased circulating prolactin concentratio... |
ORPHA:1359 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... |
OMIM:601186 |
| Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... |
OMIM:619991 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... |
ORPHA:289548 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... |
ORPHA:786 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Elevated alpha-fetoprotein, Hyperammonemia |
OMIM:617049 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thromboc... |
ORPHA:731 |
| Proteus Syndrome |
|
Lipoma, Ovarian neoplasm, Lymphangioma, Splenomegaly, Neoplasm of the thymus, Testicular neoplasm... |
ORPHA:744 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Precocious puberty, Macroorchidism |
OMIM:619950 |
| Hutchinson-Gilford Progeria Syndrome |
|
Delayed menarche, Pubertal developmental failure in females, Cyanosis, Decreased serum leptin, Ab... |
ORPHA:740 |
| Pearson Syndrome |
|
Hypoparathyroidism, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Decreased respo... |
ORPHA:699 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia, Micropenis |
OMIM:602361 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Chondrocalcinosis, Glycosuria, Generali... |
ORPHA:79474 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Hyperinsulinemia, Precocious puberty, Type II diabetes mellitus, Decreased... |
OMIM:176270 |
| Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism, Splenomegaly |
ORPHA:93 |
| Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Delayed puberty, Xanthelasma |
OMIM:232240 |
| Aspartylglucosaminuria |
|
Neutropenia, Hepatomegaly, Vacuolated lymphocytes, Macroorchidism |
OMIM:208400 |
| Alström Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Pancreatitis, Abnormal liver physiology, Hypergonadotropic hypogo... |
ORPHA:64 |
| Pmm2-Cdg |
|
Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hormone concentration,... |
ORPHA:79318 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:99413 |
| Turner Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:99228 |
| Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... |
ORPHA:99226 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Decreased resting energy expenditure |
ORPHA:404454 |
