| Laryngeal Neuroendocrine Tumor |
|
Inappropriate antidiuretic hormone secretion, Elevated calcitonin, Increased serum serotonin, Adr... |
ORPHA:100083 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... |
OMIM:620198 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... |
ORPHA:52901 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
| Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Hyperaldosteronism, Diabetes mellitus, Incre... |
ORPHA:1501 |
| Diencephalic Syndrome |
|
Cachexia, Hyperhidrosis, Long penis, Decreased body weight, Abnormality of the hypothalamus-pitui... |
ORPHA:1672 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Seizure, Type II diabetes mellitus, Hyperinsuli... |
ORPHA:79299 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Re... |
ORPHA:276608 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Decreased circulating aldosterone level, Failure to thrive, In... |
OMIM:610600 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556030 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating ho... |
OMIM:613239 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Moynahan Syndrome |
|
Cachexia, Hypogonadism |
ORPHA:2574 |
| Pituicytoma |
|
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... |
ORPHA:251623 |
| Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... |
OMIM:275000 |
| Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
| Isaacs Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71526 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Insulinoma |
|
Pituitary prolactin cell adenoma, Transient global amnesia, Fasting hyperinsulinemia, Recurrent h... |
ORPHA:97279 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Status epilepticus, Excessive insulin response to glucag... |
ORPHA:276580 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating aldosterone level, Abs... |
OMIM:300200 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Status epilepticus, Excessive insulin response to glucagon test, Hepatomega... |
ORPHA:276575 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pancreatitis, Increased circulating cortisol level, Truncal obesity, Primary hypercortisolism, De... |
OMIM:610475 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Micropenis, Dec... |
OMIM:308700 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Micropenis, Decreased circulating follicle... |
OMIM:308750 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... |
ORPHA:99886 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... |
OMIM:614736 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Seizure, Insulin resistance, Hyperinsulinemic h... |
ORPHA:263458 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism, Obesity |
OMIM:264120 |
| Thymic Neuroendocrine Tumor |
|
Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact... |
ORPHA:97289 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... |
OMIM:610489 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Weight loss |
ORPHA:411593 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... |
ORPHA:324575 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... |
OMIM:262600 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... |
OMIM:147630 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620211 |
| Medullary Thyroid Carcinoma |
|
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Hyperhidrosis... |
ORPHA:1332 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal hypoplasia, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:609734 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypopituitarism, Decreased testicular size, Delayed puberty, Abnormality of secondary sexual hair... |
ORPHA:95494 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Proprotein Convertase 1/3 Deficiency |
|
Primary amenorrhea, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decreased circulating cortiso... |
OMIM:600955 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:188580 |
| Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Crypto... |
ORPHA:361 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Status epilepticus, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepatome... |
ORPHA:276556 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Bilateral tonic-clonic seizure, Hypoinsulinemia, Hyp... |
OMIM:240900 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... |
ORPHA:189427 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Glucocorticoid Deficiency 5 |
|
Abnormal response to ACTH stimulation test, Decreased circulating cortisol level |
OMIM:617825 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Pancreatitis, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hepatic stea... |
ORPHA:79084 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... |
ORPHA:79644 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss |
ORPHA:86893 |
| X-Linked Acrogigantism |
|
Hypopituitarism, Elevated circulating growth hormone concentration, Delayed puberty, Abnormality ... |
ORPHA:300373 |
| Bangstad Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Increased circulating cortisol level, P... |
ORPHA:1227 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Abnormal libido, Adrenal hyperplasia, Pigmented micronodular adrenocortical disease, Diabetes mel... |
ORPHA:189439 |
| Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Abnormal autonomic nervous system physiology, Memory impairment, Hyperinsul... |
ORPHA:369873 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Menorrhagia, Metrorrhagia, Weight loss |
ORPHA:168816 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Weight loss |
ORPHA:317 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... |
ORPHA:90794 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Fasting hyperinsulinemia, Reactive hypoglycemia, Generalized non-motor... |
ORPHA:35878 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Progr... |
ORPHA:263455 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... |
ORPHA:320 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... |
ORPHA:66628 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Status epilepticus, Cognitive impairment, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Seizure, Hep... |
ORPHA:363400 |
| Bdv Syndrome |
|
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... |
OMIM:619326 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Small for gestational age, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimu... |
ORPHA:424 |
| Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss |
ORPHA:98293 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... |
ORPHA:179494 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Macronodular adrenal hype... |
OMIM:615954 |
| Non-Acquired Panhypopituitarism |
|
Hypopituitarism, Decreased testicular size, Delayed puberty, Abnormality of secondary sexual hair... |
ORPHA:90695 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Increased circulating androstenedione concentration, Increased ser... |
ORPHA:90795 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor... |
ORPHA:453533 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... |
ORPHA:91347 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Adrenocortico... |
ORPHA:91349 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
| Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Focal-onset ... |
ORPHA:251937 |
| Adenohypophysitis |
|
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... |
ORPHA:95512 |
| Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Weight loss, Failure to thrive |
OMIM:143880 |
| Mccune-Albright Syndrome |
|
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... |
OMIM:174800 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Familial Gestational Hyperthyroidism |
|
Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:99819 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Hyperhidrosis, Weight loss |
ORPHA:99868 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Perlman Syndrome |
|
Status epilepticus, Cryptorchidism, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology,... |
ORPHA:2849 |
| Pituitary Carcinoma |
|
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... |
ORPHA:300385 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Decreased testicular size, Increased serum t... |
OMIM:202010 |
| Panhypophysitis |
|
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... |
ORPHA:95513 |
| Tropical Pancreatitis |
|
Maternal diabetes, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocar... |
ORPHA:103918 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Decreased serum testosterone concentration, Diabetes mellitus, Infertility, E... |
ORPHA:465508 |
| Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Weight loss, Failure to thrive |
ORPHA:33355 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Abnormal circulating aldosterone, Failure to thrive in infancy... |
ORPHA:171876 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Optic atrophy, Abnormal testis morphology |
ORPHA:791 |
| Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss, Failure to thrive |
ORPHA:178029 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:168558 |
| Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification, Steatorrhea, Cachexia |
ORPHA:75233 |
| Mody |
|
Pancreatic hypoplasia, Abnormal circulating insulin concentration, Neonatal hypoglycemia, Hepatoc... |
ORPHA:552 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Ovarian neoplasm, Testicular neoplasm, Weight loss |
ORPHA:83469 |
| Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating h... |
ORPHA:280356 |
| Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cachexia, Hypogonadism |
ORPHA:97229 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Pancreatitis, Cholelithiasis, Weight loss |
ORPHA:65682 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Increased ci... |
ORPHA:97287 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Late-Onset Isolated Acth Deficiency |
|
Graves disease, Premature ovarian insufficiency, Adrenocorticotropin deficient adrenal insufficie... |
ORPHA:199299 |
| Flynn-Aird Syndrome |
|
Abnormality of the thyroid gland, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency |
ORPHA:2047 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Estrogen Resistance Syndrome |
|
Breast hypoplasia, Abnormality of the pubic hair, Hyperinsulinemia, Glucose intolerance, Abnormal... |
ORPHA:785 |
| Zollinger-Ellison Syndrome |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adrenocortic... |
ORPHA:913 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Increased circulating ACTH level, Female external genitalia in individual wi... |
ORPHA:90790 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Elevate... |
ORPHA:95699 |
| Silver-Russell Syndrome |
|
Decreased testicular size, Cryptorchidism, Precocious puberty, Failure to thrive in infancy, Cach... |
ORPHA:813 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss |
ORPHA:298 |
| Ppoma |
|
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... |
ORPHA:97278 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... |
ORPHA:3453 |
| Addison Disease |
|
Delayed puberty, Premature ovarian insufficiency, Thymoma, Adrenal hypoplasia, Increased circulat... |
ORPHA:85138 |
| Renpenning Syndrome |
|
Diabetes mellitus, Decreased testicular size, Cachexia, Hypospadias |
ORPHA:3242 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Primary hypercortis... |
OMIM:615830 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... |
OMIM:613986 |
| Somatostatinoma |
|
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... |
ORPHA:97283 |
| Solitary Fibrous Tumor |
|
Uterine neoplasm, Abnormal prostate morphology, Prostate cancer, Hypoinsulinemia, Vaginal neoplas... |
ORPHA:2126 |
| Galactokinase Deficiency |
|
Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Seizure, Psyc... |
ORPHA:79237 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypog... |
OMIM:235200 |
| Grfoma |
|
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... |
ORPHA:97261 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... |
ORPHA:786 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... |
OMIM:305400 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss |
ORPHA:2221 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Hypogonadism, Diabetes mellitus, Abnormality of th... |
ORPHA:2905 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Steatorrhea, Failure to thrive, Primary hypothyroidism, Weight loss |
ORPHA:95427 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Polycystic ovaries, Hyperinsulinemia, Cirrhosis, Hyperglycemia, Type II diabet... |
OMIM:604367 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... |
ORPHA:3085 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Uterine neoplasm, Precocious puberty, Neoplasm of the pancreas, Pancreatitis, Metrorrhagia, Neopl... |
ORPHA:370348 |
| Vipoma |
|
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... |
ORPHA:97282 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypertrichosis, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia... |
OMIM:262190 |
| Non-Functioning Paraganglioma |
|
Paraganglioma, Paraganglioma of head and neck, Episodic hyperhidrosis, Weight loss |
ORPHA:94080 |
| Pituitary Apoplexy |
|
Oligomenorrhea, Hypopituitarism, Elevated circulating growth hormone concentration, Increased cir... |
ORPHA:95613 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,... |
OMIM:246200 |
| Prolactinoma |
|
Abnormal hair quantity, Delayed puberty, Elevated circulating growth hormone concentration, Adren... |
ORPHA:2965 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter, Weight loss |
ORPHA:142 |
| Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
| Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Abnormal salivary gland morphology, Diabetic ketoacidosis, Po... |
ORPHA:2298 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Classic Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss |
ORPHA:391 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Nelson Syndrome |
|
Increased circulating prolactin concentration, Pituitary corticotropic cell adenoma, Increased ci... |
ORPHA:199244 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Polycystic ... |
OMIM:615363 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Cachexia, Weight loss |
ORPHA:1979 |
| Huntington Disease |
|
Abnormal libido, Decreased body mass index, Weight loss |
ORPHA:399 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
| Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Parathyroid carcinoma, Decreased male libido, Increased circulating cortisol level, Insu... |
ORPHA:652 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Multiple Endocrine Neoplasia, Type I |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adenoma seba... |
OMIM:131100 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Weight loss |
ORPHA:514 |
| Glucagonoma |
|
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... |
ORPHA:97280 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Acute Adrenal Insufficiency |
|
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Increased circulating reni... |
ORPHA:95409 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Increased circulating cortisol level, Truncal obesity, Medullary thyroid carci... |
ORPHA:99889 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism |
OMIM:222300 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Takayasu Arteritis |
|
Hyperhidrosis, Weight loss |
ORPHA:3287 |
| Cushing Disease |
|
Abnormal libido, Adrenal hyperplasia, Oligomenorrhea, Increased circulating ACTH level, Pituitary... |
ORPHA:96253 |
| 19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Supernumerary nipple, Cachexia, Failure to thrive, Bifid scrotum, Hypospadias |
ORPHA:217346 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Elevated calcitonin, Hyperparathyroidism, Increased circulating corti... |
OMIM:171400 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligosper... |
ORPHA:85450 |
| Wilson Disease |
|
Weight loss, Abnormality of the menstrual cycle, Failure to thrive, Increased body weight |
ORPHA:905 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Multinodular goiter, Diabetes insipidus, Hepatomegaly, Decreased respon... |
OMIM:203800 |
| Renal Nutcracker Syndrome |
|
Dysmenorrhea, Dyspareunia, Varicocele, Infertility, Vulval varicose vein, Weight loss |
ORPHA:71273 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Hypogonadism, Cachexia, Hypoplasia of penis, Hyperhidrosis, Obesity |
ORPHA:85293 |
| Celiac Disease, Susceptibility To, 1 |
|
Delayed puberty, Steatorrhea, Failure to thrive, Infertility, Thyroiditis, Type I diabetes mellit... |
OMIM:212750 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Fatal Familial Insomnia |
|
Hyperhidrosis, Weight loss |
OMIM:600072 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Failure to thrive |
ORPHA:1842 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hypothyroidism, Hashi... |
ORPHA:64744 |
| Familial Pancreatic Carcinoma |
|
Diabetes mellitus, Ovarian carcinoma, Pancreatic adenocarcinoma, Weight loss, Exocrine pancreatic... |
ORPHA:1333 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
| Tetrasomy 12P |
|
Hypohidrosis, Cachexia |
ORPHA:884 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Yao Syndrome |
|
Xerostomia, Weight loss |
OMIM:617321 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Acquired Generalized Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Hepatic steato... |
ORPHA:79086 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Polycystic ovaries, Precocious puberty in females, Low posterior hairline, Hep... |
ORPHA:528 |
| Parathyroid Carcinoma |
|
Parathyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Pancreatic a... |
ORPHA:143 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Paraganglioma, P... |
ORPHA:276621 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Type II diabetes mellitus, Cachexia |
ORPHA:1133 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Failure to thrive, Acute pancreatitis, Hypothyroidism, Weight loss |
OMIM:619487 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Weight loss |
ORPHA:2070 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hashimoto thyroiditis, Varicocele, Impotence, Hydrocele testis, Retrograde ejaculation, Weight loss |
ORPHA:49041 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased testicular size, Hypogonadism, Decreased response to growth hormone st... |
ORPHA:3464 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Hypospadias, Micropenis, Weight loss |
OMIM:613673 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated calcitonin, Adrenal pheochromocytoma, Episodic hyperhidrosis, Extraadrenal pheochromocyt... |
ORPHA:29072 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Weight loss, Obesity |
ORPHA:251071 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| X-Linked Agammaglobulinemia |
|
Weight loss, Failure to thrive |
ORPHA:47 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Congenital Tufting Enteropathy |
|
Steatorrhea, Weight loss, Failure to thrive |
ORPHA:92050 |
| Carney Complex |
|
Abnormal morphology of female internal genitalia, Increased circulating cortisol level, Euthyroid... |
ORPHA:1359 |
| Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Thyrotoxic Periodic Paralysis |
|
Graves disease, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with toxic single t... |
ORPHA:79102 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Ovarian cyst, Weight loss |
ORPHA:400 |
| Prader-Willi Syndrome |
|
Delayed puberty, Cryptorchidism, Decreased response to growth hormone stimulation test, Hyperinsu... |
OMIM:176270 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Adrenal calcification, Cachexia, Failure to thrive, Hypertriglyceridemia, Xanthelasm... |
ORPHA:275761 |
| Majeed Syndrome |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Thymoma |
|
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss |
ORPHA:99867 |
| Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Increased serum serotonin, Paraganglioma, Carcinoid tumor, Atyp... |
ORPHA:100075 |
| Tenorio Syndrome |
|
Thick eyebrow, Hypoinsulinemia, Seizure, Hypertrichosis, Hypoglycemia |
OMIM:616260 |
| Gm1 Gangliosidosis |
|
Abnormality of the scrotum, Failure to thrive, Weight loss |
ORPHA:354 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Thyroiditis, Weight loss |
ORPHA:139402 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Short Syndrome |
|
Diabetes mellitus, Weight loss |
ORPHA:3163 |
| Pyomyositis |
|
Testicular teratoma, Weight loss |
ORPHA:764 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the thyroid gland, Uterine neoplasm, Neoplasm of the pancreas, Pancreatic adenocarcin... |
ORPHA:440437 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware cognitive seizure with forced thinki... |
OMIM:616461 |
| Erdheim-Chester Disease |
|
Diabetes insipidus, Xanthelasma, Hyperhidrosis, Hypogonadotropic hypogonadism, Weight loss |
ORPHA:35687 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
| Whipple Disease |
|
Erectile dysfunction, Cachexia, Hypothyroidism |
ORPHA:3452 |
| African Trypanosomiasis |
|
Abnormality of circulating cortisol level, Abnormal prolactin level, Abnormality of the endocrine... |
ORPHA:3385 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Reduced p... |
ORPHA:99885 |
| Lynch Syndrome |
|
Neoplasm of the thyroid gland, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Ovarian neopl... |
ORPHA:144 |
| Microsporidiosis |
|
Abnormal endometrium morphology, Pancreatitis, Abnormality of the parathyroid gland, Cachexia, Ad... |
ORPHA:2552 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II di... |
OMIM:151660 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Hyperhidrosis, Weight loss |
ORPHA:52417 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Neuroendocrine neoplasm, Carcinoid tumor, Weight loss |
ORPHA:100085 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Severe failure to thrive |
ORPHA:371364 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Al Amyloidosis |
|
Autonomic erectile dysfunction, Abnormal salivary gland morphology, Xerostomia, Weight loss |
ORPHA:85443 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
| Acute Promyelocytic Leukemia |
|
Metrorrhagia, Weight loss |
ORPHA:520 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
| Giant Cell Arteritis |
|
Diabetes insipidus, Hyperhidrosis, Weight loss |
ORPHA:397 |
| Mandibuloacral Dysplasia |
|
Alopecia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Sparse hair, Insulin-resista... |
ORPHA:2457 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Alopecia, Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Sparse hair, Insuli... |
OMIM:608612 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Fa... |
ORPHA:273 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Seizure, Patent ductus arteriosus... |
OMIM:620185 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Uterine neoplasm, Abnormality of the female genitalia, Failure to thrive, Vaginal neoplasm, Weigh... |
ORPHA:1018 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Failure to thrive |
OMIM:256700 |
| Immunodeficiency 31C |
|
Hypothyroidism, Delayed puberty, Diabetes mellitus, Weight loss |
OMIM:614162 |
| Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Cachexia |
ORPHA:3217 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Steatorrhea, Weight loss |
ORPHA:309031 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Cachexia |
OMIM:175500 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Fanconi Anemia |
|
Cryptorchidism, Absent testis, Abnormal preputium morphology, Hypogonadism, Azoospermia, Decrease... |
ORPHA:84 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Familial Thrombocytosis |
|
Hyperhidrosis, Weight loss |
ORPHA:71493 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
|
