Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly |
ORPHA:2398 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... |
ORPHA:90003 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... |
ORPHA:100083 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... |
ORPHA:1133 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
ORPHA:280365 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... |
OMIM:246200 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Generalized hirsutism |
ORPHA:317 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... |
ORPHA:2088 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Hernia, Weight loss |
ORPHA:26790 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:100024 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre... |
ORPHA:42 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism, Cachexia |
ORPHA:2574 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Pheochromocytoma,... |
ORPHA:1332 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, I... |
ORPHA:3163 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:42642 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... |
ORPHA:1333 |
Short Syndrome |
|
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete... |
OMIM:269880 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... |
OMIM:615812 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Panniculitis, Hepatosplenomegaly |
ORPHA:86884 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hyperglycemia |
OMIM:604484 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Weight loss |
ORPHA:545 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... |
OMIM:175700 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Adrenal insufficiency, Steatorrhea, ... |
ORPHA:75233 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Hernia, Weight loss |
ORPHA:1842 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... |
ORPHA:440713 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... |
ORPHA:79474 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... |
ORPHA:2047 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive |
OMIM:615453 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight |
ORPHA:1672 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT... |
ORPHA:199299 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Cachexia, Thin eyebrow |
ORPHA:3242 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dystrophic f... |
ORPHA:2930 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss |
ORPHA:83469 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... |
ORPHA:171876 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... |
ORPHA:97287 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... |
OMIM:227810 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Thyroiditis, Steatorrhea, Weight loss, Delayed puberty, ... |
OMIM:212750 |
Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... |
ORPHA:2905 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia |
ORPHA:157973 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:391 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... |
ORPHA:100080 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss |
ORPHA:69077 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hepatitis, Weight loss, Cellulitis, Failure to thrive |
ORPHA:47 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive |
ORPHA:77297 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Eosinophilic Fasciitis |
|
Fasciitis, Weight loss, Cellulitis |
ORPHA:3165 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Thick h... |
ORPHA:769 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:507 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert... |
ORPHA:171 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Necrotizing Enterocolitis |
|
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss |
ORPHA:654 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Immunodeficiency 27A |
|
Splenomegaly, Weight loss, Hepatosplenomegaly |
OMIM:209950 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss |
ORPHA:134 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Facial hypertrichosis, Insulin resistance, Hyp... |
ORPHA:508 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Generalized hirsutism |
ORPHA:2221 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... |
ORPHA:100082 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Steatorrhea, Failure to... |
ORPHA:95427 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Liver abscess, Weight loss |
ORPHA:54251 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Sparse axillary hair, Pri... |
ORPHA:95409 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis |
ORPHA:47612 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Thick eyebrow, Cachexia |
ORPHA:85278 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Rett Syndrome |
|
Failure to thrive, Cholecystitis, Increased serum leptin |
ORPHA:778 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:3226 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad... |
ORPHA:85138 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Weight loss, Incre... |
ORPHA:100075 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Failure to t... |
ORPHA:275761 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic... |
ORPHA:20 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Sparse eyebro... |
OMIM:614008 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Increa... |
ORPHA:90794 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... |
OMIM:619487 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Congenital diaphragmat... |
OMIM:600001 |
Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Polymyositis |
|
Hepatomegaly, Chondrocalcinosis, Weight loss |
ORPHA:732 |
Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Knee flexion contracture |
ORPHA:3208 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... |
ORPHA:813 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Abnormality of connective tissue, Weight loss |
ORPHA:79128 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic st... |
OMIM:124000 |
Congenital Tufting Enteropathy |
|
Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea |
ORPHA:92050 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:144 |
Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Weight loss, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hy... |
OMIM:610965 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Weight loss, Hepatosplenomegaly, Decreased liver function |
ORPHA:98850 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Hepatosplenomegaly, Weight loss, Failure ... |
ORPHA:354 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:440437 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
Primary Myelofibrosis |
|
Hepatomegaly, Cachexia, Portal hypertension, Splenomegaly, Hepatosplenomegaly |
ORPHA:824 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Abnormal parathyroid morphology, Weight l... |
ORPHA:143 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia |
OMIM:618186 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatitis, Thyroiditis, Weight loss |
ORPHA:139402 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia,... |
ORPHA:37042 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Jaundice, Weight loss, Pancreatitis |
ORPHA:370348 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr... |
ORPHA:109 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia |
ORPHA:1933 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Weight loss, Hepatosplenomegaly, Hypogonadism, Decreased liver function |
ORPHA:85450 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss |
ORPHA:79242 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Abnormal spleen physiology, Weight loss |
ORPHA:398063 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Sparse hair, Failure to th... |
ORPHA:217346 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Weight ... |
ORPHA:781 |
Eosinophilic Gastroenteritis |
|
Weight loss, Steatorrhea |
ORPHA:2070 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ... |
ORPHA:100078 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypothyroidism |
OMIM:613673 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Synophrys, Obesity, Hy... |
ORPHA:85293 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Giant Cell Arteritis |
|
Alopecia, Hepatic failure, Diabetes insipidus, Weight loss |
ORPHA:397 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... |
ORPHA:740 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Weight loss |
ORPHA:67 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia |
ORPHA:3008 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Splenome... |
OMIM:219800 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Al Amyloidosis |
|
Hepatomegaly, Abnormality of the liver, Weight loss |
ORPHA:85443 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonit... |
ORPHA:2552 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Splenomegaly, White hair, Hepatosplenomegaly, Knee fl... |
ORPHA:576 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Central hypothyroidism |
ORPHA:514 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss |
ORPHA:90362 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:276621 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Hepatosplenomegaly, Flexion contracture, Enthesitis |
ORPHA:85408 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:29072 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... |
ORPHA:293987 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Small for gestational age, Highly arched eyebrow, Increased hepato... |
OMIM:220111 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:98849 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Weight loss |
ORPHA:37 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Cachexia |
OMIM:175500 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Diabetes insip... |
ORPHA:35687 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Hypogonadism... |
ORPHA:1328 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
ORPHA:191 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Nocardiosis |
|
Liver abscess, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Cellulitis |
ORPHA:31204 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Weight loss |
ORPHA:91139 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hepatic steatosis |
OMIM:615846 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Thymoma |
|
Neoplasm of the thyroid gland, Weight loss |
ORPHA:99867 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Thick h... |
ORPHA:444077 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Weight loss, Pancreatitis, Elevated hepatic transaminase |
ORPHA:36426 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Weight loss, Pancreatitis, Elevated hepatic transaminase |
ORPHA:537 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
Castleman Disease |
|
Jaundice, Weight loss |
ORPHA:160 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Hypersplenism, Splenomegaly, Weight loss,... |
ORPHA:1304 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Inguinal hernia, Abnormal eyebrow morphology, Shoulder flexion contracture, Cach... |
ORPHA:800 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion... |
ORPHA:2020 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Long eyelashes, Abnormal dental enamel morphology, Weight loss |
ORPHA:79430 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Sarcoidosis |
|
Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension, Abnor... |
ORPHA:797 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia |
ORPHA:3380 |
Fanconi Anemia |
|
Weight loss, Abnormality of the liver, Hypogonadism, Umbilical hernia, Abnormality of the hypotha... |
ORPHA:84 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Hypoglycemia, Glycosuria |
ORPHA:3337 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Seckel Syndrome |
|
Sparse scalp hair, Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Reactive Arthritis |
|
Weight loss, Dystrophic fingernails, Enthesitis |
ORPHA:29207 |
African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Abnormality of the endocrine system, Splenomegaly, Jaundice, Abnormality ... |
ORPHA:3385 |
Scorpion Envenomation |
|
Glycosuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Hy... |
ORPHA:466677 |
Juvenile Dermatomyositis |
|
Alopecia, Weight loss |
ORPHA:93672 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Igg4-Related Kidney Disease |
|
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, T... |
ORPHA:449395 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Splenomegaly, Weight loss |
ORPHA:50918 |
Rat-Bite Fever |
|
Pancreatitis, Weight loss |
ORPHA:31205 |
Multiple Myeloma |
|
Splenomegaly, Weight loss |
ORPHA:29073 |
Granulomatosis With Polyangiitis |
|
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Pancreatitis, Weight loss |
ORPHA:900 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hashimoto thyroiditis, Weight loss |
ORPHA:49041 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Delayed ... |
ORPHA:2072 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Weight loss |
ORPHA:60025 |
Dermatomyositis |
|
Abnormal hair quantity, Weight loss, Chondrocalcinosis, Cellulitis |
ORPHA:221 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Weight loss |
ORPHA:79078 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss |
ORPHA:52417 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma |
ORPHA:79076 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Alopecia, Fasciitis, Flexion contracture, Weight loss, Nail dystrophy |
ORPHA:99921 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Hepatomegaly, Weight loss |
OMIM:181000 |
Postinfectious Vasculitis |
|
Viral hepatitis, Weight loss |
ORPHA:48435 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Cachexia |
ORPHA:1969 |
Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
Behçet Disease |
|
Splenomegaly, Pancreatitis, Weight loss |
ORPHA:117 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Low anterior hairline, Cachexia, Abnormal hair morphology |
ORPHA:647 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Neoplasm of the thymus, Splenome... |
ORPHA:744 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:2388 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Hepatitis, Weight loss |
OMIM:619381 |
Marfan Syndrome |
|
Inguinal hernia, Slender build, Cachexia |
ORPHA:558 |
Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Delayed puberty |
ORPHA:649 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Stickler Syndrome |
|
Slender build, Abnormal dental enamel morphology, Cachexia |
ORPHA:828 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Weight loss |
ORPHA:91500 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:75565 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |