Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... |
ORPHA:100083 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Hyperactivity, Increased serum serotonin |
ORPHA:85288 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... |
OMIM:275000 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Polydipsia, Weight loss |
ORPHA:30925 |
Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:617885 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Polydipsia, Weight loss |
ORPHA:95626 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Dysphagia |
ORPHA:2198 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss, Diabetes insipidus |
ORPHA:178029 |
Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia |
ORPHA:411593 |
Medullary Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Dysphagia, Medullary thyroid ... |
ORPHA:1332 |
Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Hyperactivity |
OMIM:609425 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight lo... |
ORPHA:424 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:600546 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity |
OMIM:274270 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity |
DECIPHER:39 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
Morm Syndrome |
|
Hyperactivity, Truncal obesity |
ORPHA:75858 |
Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight lo... |
ORPHA:99819 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight, Decreased serum insulin-like growth factor 1, Elevated circ... |
OMIM:608747 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... |
ORPHA:435651 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Decreased ... |
ORPHA:435660 |
Huntington Disease |
|
Weight loss, Choking episodes, Alcoholism, Agitation, Polyphagia, Disinhibition, Decreased body m... |
ORPHA:399 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis |
ORPHA:1672 |
Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:98897 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Weight loss, Reduced subcutaneous adipose tissue, Cachexia, Type I diabetes ... |
ORPHA:1979 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... |
OMIM:613239 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased intraabdominal fat,... |
ORPHA:79085 |
Moynahan Syndrome |
|
Cachexia, Hypogonadism |
ORPHA:2574 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Lipodystrophy |
OMIM:615238 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Anaplastic thyroid carcinoma, Dysphagia, Goiter |
ORPHA:142 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Weight loss, Increased circulating cortisol level,... |
ORPHA:1501 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cachexia, Hypogonadism, Dysphagia |
ORPHA:97229 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Weight loss, Dysphagia |
ORPHA:216866 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration... |
OMIM:609152 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia |
ORPHA:411515 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss, Dysphagia |
ORPHA:97286 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Weight loss |
ORPHA:33355 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Christianson Syndrome |
|
Cachexia, Arthrogryposis multiplex congenita, Dysphagia |
ORPHA:85278 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Pseudomyxoma Peritonei |
|
Hernia, Weight loss |
ORPHA:26790 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Weight loss |
ORPHA:317 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Weight loss, Cachexia, Hypergonadotropic hypogonadism, Dysphagia, Hypogonadotropic hypogonadism |
ORPHA:298 |
Hodgkin Lymphoma |
|
Weight loss |
ORPHA:98293 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Precocious puberty, Decreased body weight |
OMIM:300958 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity |
ORPHA:369939 |
Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Agitation |
ORPHA:778 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Flexion contracture |
ORPHA:157973 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Primary hypothyroidism |
ORPHA:95427 |
Fatal Familial Insomnia |
|
Weight loss, Dysphagia |
OMIM:600072 |
Female Restricted Epilepsy With Intellectual Disability |
|
Impulsivity, Hyperactivity, Abnormal eating behavior |
ORPHA:101039 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Diabeti... |
ORPHA:2298 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity |
OMIM:619239 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Huntington Disease-Like 1 |
|
Restlessness, Weight loss |
ORPHA:157941 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:608594 |
Eosinophilic Fasciitis |
|
Fasciitis, Weight loss, Cellulitis |
ORPHA:3165 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hern... |
OMIM:620141 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I... |
ORPHA:280365 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:188580 |
Zollinger-Ellison Syndrome |
|
Multiple lipomas, Pituitary corticotropic cell adenoma, Weight loss, Increased circulating cortis... |
ORPHA:913 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Small for gestational age, Failure to thrive, Attention deficit hype... |
ORPHA:73272 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Eosinophilic Gastroenteritis |
|
Weight loss, Dysphagia |
ORPHA:2070 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... |
ORPHA:85327 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Cachexia, Type I diabetes mellitus, Lipoatrophy, Abnormal dental ename... |
ORPHA:1133 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Obesity |
ORPHA:412035 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... |
ORPHA:525731 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:269700 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hernia, Weight loss |
ORPHA:1842 |
Perry Syndrome |
|
Disinhibition, Weight loss |
OMIM:168605 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Increased circulating renin l... |
ORPHA:171876 |
Flynn-Aird Syndrome |
|
Type II diabetes mellitus, Abnormality of the thyroid gland, Cachexia, Primary adrenal insufficiency |
ORPHA:2047 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Weight loss, Increased circulating ACTH level, Decreased... |
ORPHA:95409 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Decreased circulating aldosterone level, Weight loss, Decreased circulating d... |
ORPHA:361 |
Parathyroid Carcinoma |
|
Chondrocalcinosis, Weight loss, Thyroid carcinoma, Abnormality of the parathyroid morphology, Ele... |
ORPHA:143 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating AC... |
ORPHA:43 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Cachexia |
ORPHA:52503 |
Addison Disease |
|
Thymoma, Decreased circulating aldosterone level, Weight loss, Increased circulating ACTH level, ... |
ORPHA:85138 |
Short Syndrome |
|
Weight loss, Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology |
ORPHA:3163 |
Bronchial Neuroendocrine Tumor |
|
Increased circulating cortisol level, Weight loss, Increased circulating ACTH level, Increased se... |
ORPHA:97287 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Arthrogryposis multiplex congenita |
OMIM:618186 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Gm1 Gangliosidosis |
|
Oral aversion, Camptodactyly of finger, Weight loss, Failure to thrive, Inguinal hernia, Dysphagia |
ORPHA:354 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Hereditary Late-Onset Parkinson Disease |
|
Agitation, Impulsivity, Weight loss, Dysphagia |
ORPHA:411602 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hyperactivity, Hypogonadism, Cachexia, Inguinal hernia, Obesity |
ORPHA:85293 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Weight loss, Paraganglioma |
ORPHA:94080 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Weight loss |
ORPHA:3208 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Cachexia, Failure to thrive in infancy |
OMIM:616801 |
Renpenning Syndrome |
|
Diabetes mellitus, Cachexia |
ORPHA:3242 |
Glossopharyngeal Neuralgia |
|
Weight loss, Oral-pharyngeal dysphagia |
ORPHA:221098 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss, Cellulitis |
ORPHA:47 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Keppen-Lubinsky Syndrome |
|
Flexion contracture, Failure to thrive, Decreased serum leptin, Generalized lipodystrophy, Lack o... |
OMIM:614098 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Weight loss |
ORPHA:33577 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Agitation, Weight loss |
ORPHA:134 |
Lynch Syndrome |
|
Flexion contracture, Weight loss, Pituitary adenoma, Neoplasm of the thyroid gland, Attention def... |
ORPHA:144 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Cachexia, Upper-limb joint contracture, Dysphagia |
ORPHA:300605 |
Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification, Cachexia |
ORPHA:75233 |
Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Weight loss, Hypogonadism, Primary... |
ORPHA:2905 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Late-Onset Isolated Acth Deficiency |
|
Weight loss, Decreased circulating ACTH level, Decreased circulating cortisol level, Pituitary ad... |
ORPHA:199299 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Flexion contracture, Weight loss |
ORPHA:77297 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Vipoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
ORPHA:97282 |
Familial Colorectal Cancer Type X |
|
Flexion contracture, Weight loss, Pituitary adenoma, Neoplasm of the thyroid gland, Attention def... |
ORPHA:440437 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Ppoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
ORPHA:97278 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Somatostatinoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
ORPHA:97283 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Acute Promyelocytic Leukemia |
|
Alcoholism, Weight loss |
ORPHA:520 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Testicular atrophy, Diabetes mellitus, Decreased serum testosterone ... |
ORPHA:465508 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary null cell ade... |
ORPHA:652 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Wilson Disease |
|
Failure to thrive, Weight loss, Increased body weight |
ORPHA:905 |
Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Knee flexion contracture, Hip contracture, Elbow flexion contracture, Cachexia, Severe failure to... |
ORPHA:371364 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Hypogonadism, Type II diabetes mellitus, Failure to thri... |
ORPHA:79474 |
Grfoma |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre... |
ORPHA:97261 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Decreased serum leptin, Flexion contracture, Lipoatrophy |
OMIM:614008 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia |
ORPHA:42 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Weight loss |
ORPHA:514 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Dysphagia |
OMIM:603041 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss, Increased circulating ACTH level, Atypical pulmonary carcinoid tumor, Increased seru... |
ORPHA:100075 |
Whipple Disease |
|
Hypothyroidism, Cachexia, Polydipsia |
ORPHA:3452 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Weight loss, Thyroiditis, Type I diabetes mellitus, Failure to thrive, Delayed... |
OMIM:212750 |
Felty Syndrome |
|
Weight loss, Cellulitis |
ORPHA:47612 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... |
ORPHA:90794 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss, Dysphagia |
ORPHA:183 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss, Dysphagia |
ORPHA:1018 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Glucagonoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
ORPHA:97280 |
Polymyositis |
|
Chondrocalcinosis, Weight loss |
ORPHA:732 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm, Weight loss |
ORPHA:100085 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy |
ORPHA:702 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Diabetes insipidus, Polydipsia, Weight loss |
ORPHA:35687 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Abnormality of connective tissue, Weight loss |
ORPHA:79128 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Adrena... |
ORPHA:276621 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Corneal scarring, Cachexia, Failure to thrive, Absence of subcutaneous fat |
OMIM:610965 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss |
ORPHA:103918 |
Al Amyloidosis |
|
Weight loss, Dysphagia |
ORPHA:85443 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Congenital Fiber-Type Disproportion Myopathy |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Weight loss, Elbow flexion contra... |
ORPHA:2020 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Elevated calcitonin, Paraganglioma of head and neck, Paraganglioma, Extraadrenal phe... |
ORPHA:29072 |
Silver-Russell Syndrome |
|
Precocious puberty, Cachexia, Obesity, Failure to thrive in infancy, Premature adrenarche |
ORPHA:813 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hypothyroidism, Weight loss |
OMIM:619487 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Juvenile Dermatomyositis |
|
Weight loss, Dysphagia |
ORPHA:93672 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss, Dysphagia |
OMIM:607459 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes ... |
ORPHA:99885 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Thyroiditis, Weight loss |
ORPHA:139402 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Thymoma |
|
Neoplasm of the thyroid gland, Weight loss |
ORPHA:99867 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Weight loss |
ORPHA:370348 |
Cystinosis, Nephropathic |
|
Weight loss, Male hypogonadism, Primary hypothyroidism, Delayed puberty, Diabetes mellitus, Dysph... |
OMIM:219800 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Stevens-Johnson Syndrome |
|
Weight loss, Dysphagia |
ORPHA:36426 |
Giant Cell Arteritis |
|
Diabetes insipidus, Weight loss |
ORPHA:397 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do... |
ORPHA:99889 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Weight loss |
ORPHA:85450 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, Dysphagia |
OMIM:164310 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calc... |
ORPHA:280651 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Thyroid carcinoma, Cachexia, Hashimoto thyroiditis, Lipoma |
ORPHA:109 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi... |
ORPHA:79102 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Familial Pancreatic Carcinoma |
|
Diabetes mellitus, Weight loss |
ORPHA:1333 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Small intestine carcinoid, Weight loss |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Small intestine carcinoid, Weight loss |
ORPHA:100077 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Decreased body weight, Hip contracture, Flexion contracture of toe, Ca... |
ORPHA:800 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Immunodeficiency 31C |
|
Hypothyroidism, Delayed puberty, Diabetes mellitus, Weight loss |
OMIM:614162 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Weight loss |
OMIM:613673 |
Lysosomal Acid Lipase Deficiency |
|
Weight loss, Cachexia, Primary adrenal insufficiency, Failure to thrive, Adrenal calcification |
ORPHA:275761 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Cachexia, Type I diabetes mellitus, Abnormality of ... |
ORPHA:37042 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Absence of subcutaneous fat, Pubertal developmental failure in females, Weig... |
ORPHA:740 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Enthesitis, Flexion contracture, Weight loss |
ORPHA:85408 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss |
ORPHA:52417 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Hip contracture, Weight loss, Inguinal hernia, Umbilical hernia |
ORPHA:576 |
Trisomy 18 |
|
Camptodactyly of finger, Hernia, Cachexia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:3380 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Alveolar Echinococcosis |
|
Weight loss, Abnormality of adrenal morphology |
ORPHA:284 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Abnormal dental enamel morphology |
ORPHA:79430 |
Seckel Syndrome |
|
Cachexia, Abnormal dental enamel morphology |
ORPHA:808 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hashimoto thyroiditis, Weight loss |
ORPHA:49041 |
Nijmegen Breakage Syndrome |
|
Cachexia, Attention deficit hyperactivity disorder |
ORPHA:647 |
Reactive Arthritis |
|
Enthesitis, Weight loss |
ORPHA:29207 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Abnormality of the thyroid gland |
ORPHA:1969 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Microsporidiosis |
|
Weight loss, Thyroiditis, Cachexia, Adrenocortical abnormality, Abnormality of the parathyroid gland |
ORPHA:2552 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Marfan Syndrome |
|
Slender build, Inguinal hernia, Cachexia, Attention deficit hyperactivity disorder |
ORPHA:558 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Nocardiosis |
|
Thyroiditis, Abnormality of the adrenal glands, Weight loss, Cellulitis |
ORPHA:31204 |
Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Weight loss |
ORPHA:88673 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Weight loss |
OMIM:615846 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Flexion contracture, Weight loss, Dysphagia |
ORPHA:99921 |
Primary Sclerosing Cholangitis |
|
Thyroiditis, Type I diabetes mellitus, Weight loss |
ORPHA:171 |
Fanconi Anemia |
|
Umbilical hernia, Hypogonadism, Abnormality of the hypothalamus-pituitary axis, Weight loss |
ORPHA:84 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Camurati-Engelmann Disease |
|
Hypogonadism, Abnormal subcutaneous fat tissue distribution, Cachexia, Delayed puberty, Slender b... |
ORPHA:1328 |
Dermatomyositis |
|
Chondrocalcinosis, Weight loss, Cellulitis |
ORPHA:221 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Weight loss |
ORPHA:900 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma |
ORPHA:79076 |
Cockayne Syndrome |
|
Enamel hypoplasia, Contractures of the large joints, Reduced subcutaneous adipose tissue, Cachexi... |
ORPHA:191 |
Choreoacanthocytosis |
|
Hyperactivity, Weight loss, Dysphagia |
ORPHA:2388 |
Brucellosis |
|
Small for gestational age, Failure to thrive, Weight loss |
ORPHA:1304 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Nodular goiter, Thyroiditis, Weight loss |
ORPHA:79078 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Norrie Disease |
|
Cachexia, Failure to thrive, Delayed puberty, Diabetes mellitus, Attention deficit hyperactivity ... |
ORPHA:649 |
African Trypanosomiasis |
|
Weight loss, Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, ... |
ORPHA:3385 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Sarcoidosis |
|
Hypothyroidism, Diabetes insipidus, Hyperthyroidism, Weight loss, Scarring, Abnormality of the ad... |
ORPHA:797 |
Behçet Disease |
|
Weight loss |
ORPHA:117 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Proteus Syndrome |
|
Diabetes insipidus, Neoplasm of the thymus, Abnormal subcutaneous fat tissue distribution, Cachex... |
ORPHA:744 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Thyroiditis, Weight loss |
ORPHA:449395 |
Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Cachexia |
ORPHA:2072 |
Stickler Syndrome |
|
Slender build, Cachexia, Abnormal dental enamel morphology |
ORPHA:828 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Weight loss |
ORPHA:91500 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |