Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity |
OMIM:612227 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Autoimmunity, Reactive hypoglycemia, Insulin resistance, Autoimmune anti... |
ORPHA:411593 |
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, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Anti-g... |
OMIM:616329 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Autoimmunity |
OMIM:222100 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Au... |
ORPHA:99886 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... |
ORPHA:293964 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:444463 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Episodic hyperhidro... |
ORPHA:276580 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... |
ORPHA:79230 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Episodic hyperhidrosis, Hyperinsulinem... |
ORPHA:276575 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Autoimmune antibody po... |
ORPHA:552 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity |
OMIM:216950 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:151660 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... |
ORPHA:79644 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Autoimmunity |
ORPHA:79087 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancrea... |
OMIM:246200 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemia, Abnormal sali... |
ORPHA:2298 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Linear Iga Dermatosis |
|
Autoimmunity |
ORPHA:46488 |
Bullous Pemphigoid |
|
Diabetes mellitus, Autoimmunity |
ORPHA:703 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
OMIM:615952 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Autoimmunity, Pituitary adenoma, Adrenocor... |
ORPHA:91354 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Anti-thyroid peroxidase antibody pos... |
ORPHA:64744 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hyperglycemia |
OMIM:604484 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti-thyroid peroxidase antibody p... |
ORPHA:228426 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity |
OMIM:618495 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic mi... |
ORPHA:440713 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... |
OMIM:175700 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus |
ORPHA:90033 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... |
ORPHA:93111 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Ins... |
OMIM:269880 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... |
OMIM:609069 |
Dend Syndrome |
|
Hyperglycemia, Autoimmune antibody positivity |
ORPHA:79134 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity |
OMIM:615387 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Juvenile rheumatoid arthritis, Autoimmunity |
ORPHA:85414 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Glycosuria, Ab... |
ORPHA:2088 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Autoimmunity |
ORPHA:56425 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocytop... |
ORPHA:391673 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal... |
ORPHA:100026 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:79086 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody positivity, Glycosuria, Hypergl... |
ORPHA:99885 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:615812 |
Autoimmune Polyendocrinopathy Type 3 |
|
Antiphospholipid antibody positivity, Autoimmunity, Autoimmune hypoparathyroidism, Autoimmune thr... |
ORPHA:227982 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Autoimmune Polyendocrinopathy Type 4 |
|
Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib... |
ORPHA:227990 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukocytosis, Thrombocytosis, Hyperglycemia |
ORPHA:134 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
Perlman Syndrome |
|
Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hypoglycemia |
OMIM:267000 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Autoimmunity, Hepatitis, Hypoplasia of the thymus, Type I diabetes m... |
ORPHA:436252 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia... |
OMIM:227810 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Patent d... |
OMIM:600001 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... |
ORPHA:373 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Autoimmunity, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... |
ORPHA:449432 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, ... |
ORPHA:79474 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... |
ORPHA:508 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Hyperlipidemia... |
ORPHA:293987 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Greenberg Dysplasia |
|
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly |
OMIM:215140 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... |
OMIM:124000 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Scorpion Envenomation |
|
Hyperglycemia, Glycosuria, Acute pancreatitis, Hyperhidrosis |
ORPHA:466677 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Decreased response to growth hormone stimulation test, ... |
ORPHA:444077 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Splenomegaly, Patent ductus arter... |
OMIM:312870 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatoc... |
OMIM:220111 |