Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Autoimmunity, Diabetes mellitus |
OMIM:612227 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Insulin resistance, Autoimmune antib... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... |
ORPHA:90283 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Complement Component C1S Deficiency |
|
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocytopenia, Hepatitis, Autoimmunity,... |
ORPHA:444463 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Loss... |
OMIM:604367 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity |
OMIM:216950 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hypogonadism, Diabetes... |
ORPHA:79230 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Inclusion Body Myositis |
|
Autoimmunity |
ORPHA:611 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 7 |
|
Autoimmunity |
OMIM:615387 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Autoimmunity |
ORPHA:79087 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Flexion contracture, Hyperglycemia |
OMIM:618856 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Cholestasis, Hepatic fibrosis, ... |
OMIM:246200 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Autoimmunity, Diabetes mellitus |
OMIM:614162 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... |
ORPHA:263455 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Polycystic ovaries, Enlarged polycystic ovaries, Hyperglycemia, Sys... |
ORPHA:2298 |
Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity |
ORPHA:399180 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated alpha-fetoprotein |
OMIM:615970 |
Febrile Infection-Related Epilepsy Syndrome |
|
Autoimmunity |
ORPHA:163703 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, ... |
ORPHA:231154 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia |
OMIM:601165 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity |
OMIM:617006 |
Linear Iga Dermatosis |
|
Autoimmunity |
ORPHA:46488 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Bullous Pemphigoid |
|
Autoimmunity, Diabetes mellitus |
ORPHA:703 |
Preeclampsia |
|
Polycystic ovaries, Type I diabetes mellitus, Abnormality of the hepatic vasculature, Autoimmunity |
ORPHA:275555 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... |
ORPHA:79480 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... |
ORPHA:64744 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... |
OMIM:615952 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, In... |
ORPHA:91354 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Anem... |
OMIM:609069 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Cirrhosi... |
ORPHA:228426 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... |
OMIM:248370 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... |
OMIM:615954 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Autoimmune thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:614470 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Autoimmunity, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity |
ORPHA:48377 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Systemic lupus erythematosus, Splenomegaly, Autoimmunity, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Flexion contracture, Steatorrhea, Inguinal... |
ORPHA:440713 |
Unclassified Myelodysplastic Syndrome |
|
Autoimmunity |
ORPHA:98827 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Short Syndrome |
|
Glucose intolerance, Lipoatrophy, Inguinal hernia, Lipodystrophy, Insulin-resistant diabetes mell... |
OMIM:269880 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglyc... |
OMIM:175700 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmunity |
ORPHA:90036 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Cholestatic liver disease, Smooth muscle antib... |
ORPHA:562639 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia |
ORPHA:90065 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Autoimmunity, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum testosterone concentration,... |
ORPHA:465508 |
Immunodeficiency 22 |
|
Autoimmunity |
OMIM:615758 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carc... |
ORPHA:2088 |
Cold Agglutinin Disease |
|
Autoimmunity, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Polycystic ovaries, Cirrhosis, Acute pancreatitis, Autoimmunity, ... |
ORPHA:79086 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Thrombocytopenia, Hyperglyc... |
ORPHA:391673 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Antineutrophil antibody positivity, Rheumatoid factor posit... |
ORPHA:90060 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:619737 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmunity, Auto... |
ORPHA:100026 |
Autoimmune Polyendocrinopathy Type 3 |
|
Antiphospholipid antibody positivity, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmu... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Antiphospholipid antibody positivity, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmu... |
ORPHA:227990 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Lower-limb joint contracture, Glycosuria, Neonatal insulin-dependent diabetes mellitus, Pancreati... |
ORPHA:99885 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Autoimmunity, Adrenal hyperplasia |
ORPHA:3453 |
Autoimmune Hemolytic Anemia |
|
Autoimmunity, Splenomegaly |
ORPHA:98375 |
Overlap Myositis |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Autoimmunity, Diabetes mellitus, Antinuclear ... |
ORPHA:206572 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Reduced pancreatic beta cells, Type I diabetes mellitus, Insulin-resistant diabetes... |
OMIM:226980 |
Pemphigus Vulgaris |
|
Autoimmunity |
ORPHA:704 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Antinuclear antibody positivity, Autoimmunity |
ORPHA:85410 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity, Splenomegaly |
OMIM:618398 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia |
OMIM:613011 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Juvenile rheumatoid arthritis, Autoimmunity, Hashimoto thyroiditis |
ORPHA:275 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
Nodular Non-Suppurative Panniculitis |
|
Autoimmunity, Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hypoglycemia, Thrombocytosis, Hyperglycemia |
ORPHA:134 |
Macrophage Activation Syndrome |
|
Systemic lupus erythematosus, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Hepatiti... |
ORPHA:158061 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmunity, Autoimmune thrombocytopenia |
ORPHA:760 |
Igg4-Related Aortitis |
|
Antinuclear antibody positivity, Autoimmunity, Cytoplasmic antineutrophil antibody positivity |
ORPHA:449400 |
Spondyloenchondrodysplasia |
|
Systemic lupus erythematosus, Decreased response to growth hormone stimulation test, Juvenile rhe... |
ORPHA:1855 |
Dermatitis Herpetiformis |
|
Autoimmunity |
ORPHA:1656 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Pituitary adenoma, Hypoglycemia, Hepa... |
ORPHA:199299 |
Primary Biliary Cholangitis |
|
Cirrhosis, Hepatocellular carcinoma, Hepatitis, Autoimmunity, Hepatic fibrosis, Portal hypertensi... |
ORPHA:186 |
Stiff-Person Syndrome |
|
Autoimmunity, Diabetes mellitus |
OMIM:184850 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Type I diabetes mellitus, Autoimmunity, ... |
ORPHA:436252 |
Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Diabetes mellitus |
ORPHA:494424 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Pancreatic islet-c... |
OMIM:276700 |
Myasthenia Gravis |
|
Autoimmunity |
OMIM:254200 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hepatoblastoma, Congenital diaphragmatic hernia, Splenomegaly, Inguinal hernia, Cam... |
ORPHA:373 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria, Aplasia of the lef... |
OMIM:600001 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... |
ORPHA:171 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abnormality of th... |
ORPHA:449432 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Chondrocalcinosis, Glycosuria, Generali... |
ORPHA:79474 |
Leprechaunism |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, ... |
ORPHA:508 |
Alpha-Fetoprotein Deficiency |
|
Decreased levels of alpha-fetoprotein |
OMIM:615969 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... |
ORPHA:293987 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Hyperhidrosis, Thyrotoxicosis with t... |
ORPHA:79102 |
Perlman Syndrome |
|
Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia |
OMIM:267000 |
Greenberg Dysplasia |
|
Hepatic calcification, Pancreatic islet-cell hyperplasia, Hepatosplenomegaly, Hepatomegaly |
OMIM:215140 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Antinuclear antibody positivity, Abnormal salivary gland morphology, Abnormality of the submandib... |
ORPHA:79078 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:3008 |
Scorpion Envenomation |
|
Acute pancreatitis, Glycosuria, Hyperhidrosis, Hyperglycemia |
ORPHA:466677 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Patent ductus arteriosus, Decreased response to growth hormone stimulation test, ... |
ORPHA:444077 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis, Autoimmunity |
ORPHA:405 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hepatoblastoma, Congenital diaphragmatic hernia, Splenomegaly, Inguinal hernia, Pan... |
OMIM:312870 |