| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating ... |
ORPHA:100083 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Seizure, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsuli... |
ORPHA:79299 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... |
ORPHA:1672 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Sei... |
ORPHA:276608 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... |
ORPHA:556037 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Incr... |
OMIM:610600 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased response to ... |
ORPHA:251623 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... |
ORPHA:556030 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
| Isaacs Syndrome |
|
Weight loss, Hyperhidrosis |
ORPHA:84142 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Status epilepticus... |
ORPHA:276575 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Se... |
ORPHA:99886 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Seizure, Recurrent hypoglycemia, Hype... |
ORPHA:263458 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... |
OMIM:614736 |
| Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Weight loss |
ORPHA:411593 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the young, Reac... |
ORPHA:324575 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Reactive hypoglycemia, Fasting hyperinsulinemia, Generalized non-motor... |
ORPHA:35878 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure, Hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Neonatal hyp... |
OMIM:240900 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Abnormal autonomic nervous system physiology, Cognitive im... |
ORPHA:369873 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
| Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Weight loss |
ORPHA:317 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:86893 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Seizure, Increased ci... |
ORPHA:1227 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Progressive neurologic deterioration, Hyperinsulinemia, Hyperhidrosis, Seizure, Gly... |
ORPHA:263455 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... |
ORPHA:320 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Progressive psychomotor deterioration, Hyperinsulinemia, Seizur... |
ORPHA:363400 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Focal-onset seizu... |
ORPHA:251937 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Hyperhidrosis |
ORPHA:99868 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm |
ORPHA:83469 |
| Perlman Syndrome |
|
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Seizure, Status epi... |
ORPHA:2849 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
| Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
| Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... |
ORPHA:171876 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
| Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification, Cachexia, Steatorrhea |
ORPHA:75233 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Weight loss, Infertility, E... |
ORPHA:465508 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Retinitis Pigmentosa |
|
Optic atrophy, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Pancreatitis, Weight loss |
ORPHA:65682 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Adreno... |
ORPHA:199299 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
| Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
| Flynn-Aird Syndrome |
|
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia |
ORPHA:2047 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus, Cachexia |
ORPHA:97229 |
| Renpenning Syndrome |
|
Diabetes mellitus, Hypospadias, Decreased testicular size, Cachexia |
ORPHA:3242 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
| Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Premature o... |
ORPHA:85138 |
| Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss |
ORPHA:298 |
| Solitary Fibrous Tumor |
|
Vaginal neoplasm, Weight loss, Prostate cancer, Hypoinsulinemia, Abnormal prostate morphology, Ut... |
ORPHA:2126 |
| Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul... |
ORPHA:79237 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
| Non-Functioning Paraganglioma |
|
Episodic hyperhidrosis, Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Prolactinoma |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... |
ORPHA:2965 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pol... |
OMIM:604367 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Central hypothyroidism, Primary hypothyroidism, Steatorrhea, Failure to thrive |
ORPHA:95427 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduced circulating ... |
ORPHA:91355 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm |
ORPHA:2221 |
| Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
| Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Pancreatic islet-cell hyperplasi... |
OMIM:246200 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... |
ORPHA:370348 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... |
ORPHA:2298 |
| Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
| Classic Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:391 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... |
ORPHA:2905 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Huntington Disease |
|
Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Cachexia, Weight loss |
ORPHA:1979 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive |
ORPHA:217346 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Central hypothyroidism |
ORPHA:514 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Takayasu Arteritis |
|
Weight loss, Hyperhidrosis |
ORPHA:3287 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Primary adrena... |
ORPHA:95409 |
| Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
| Alstrom Syndrome |
|
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... |
OMIM:203800 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Obesity, Hyperhidrosis, Hypogonadism, Decreased testicular size |
ORPHA:85293 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle |
ORPHA:905 |
| Celiac Disease, Susceptibility To, 1 |
|
Thyroiditis, Steatorrhea, Weight loss, Infertility, Delayed puberty, Type I diabetes mellitus, Fa... |
OMIM:212750 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Fatal Familial Insomnia |
|
Weight loss, Hyperhidrosis |
OMIM:600072 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele |
ORPHA:71273 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Tetrasomy 12P |
|
Cachexia, Hypohidrosis |
ORPHA:884 |
| Yao Syndrome |
|
Xerostomia, Weight loss |
OMIM:617321 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight los... |
ORPHA:276621 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Weight loss, Ovarian carcinoma, Exocrine pancreatic... |
ORPHA:1333 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... |
ORPHA:79086 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Type II diabetes mellitus, Cachexia |
ORPHA:1133 |
| Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Weight loss, Micropenis, Failure to thrive, Hypothyroidism |
OMIM:619487 |
| Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight los... |
ORPHA:29072 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:176270 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Weight loss |
ORPHA:2070 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| 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 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Weight loss |
ORPHA:400 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Micropenis, Hypothyroidism, Hypospadias, Weight loss |
OMIM:613673 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hashimoto thyroiditis, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele |
ORPHA:49041 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Steatorrhea, Weight loss |
ORPHA:92050 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss... |
ORPHA:275761 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Tenorio Syndrome |
|
Hypoglycemia, Seizure, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Thyroiditis, Weight loss |
ORPHA:139402 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Thymoma |
|
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss |
ORPHA:99867 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Abnormality of the scrotum, Weight loss |
ORPHA:354 |
| Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Weight loss, Paraganglioma, Atypical pulmonary carcinoid tumor,... |
ORPHA:100075 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
| Short Syndrome |
|
Diabetes mellitus, Weight loss |
ORPHA:3163 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss, Hyperhidrosis |
ORPHA:52417 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop... |
ORPHA:144 |
| Microsporidiosis |
|
Cachexia, Abnormality of the parathyroid gland, Thyroiditis, Abnormal endometrium morphology, Wei... |
ORPHA:2552 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Weight loss, Pancreatic hypoplasia, Failure to thri... |
ORPHA:99885 |
| African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Weight loss, Abnormal pr... |
ORPHA:3385 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Weight loss, Hyperhidrosis, Xanthelasma, Diabetes insipidus |
ORPHA:35687 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Carcinoid tumor, Increased serum serotonin, Weight loss |
ORPHA:100085 |
| Whipple Disease |
|
Cachexia, Hypothyroidism, Erectile dysfunction |
ORPHA:3452 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Steinert Myotonic Dystrophy |
|
Short attention span, Decreased serum testosterone concentration, Diabetes mellitus, Hypergonadot... |
ORPHA:273 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Giant Cell Arteritis |
|
Weight loss, Diabetes insipidus, Hyperhidrosis |
ORPHA:397 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Al Amyloidosis |
|
Abnormal salivary gland morphology, Xerostomia, Autonomic erectile dysfunction, Weight loss |
ORPHA:85443 |
| Mandibuloacral Dysplasia |
|
Alopecia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose into... |
ORPHA:2457 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Acute Promyelocytic Leukemia |
|
Metrorrhagia, Weight loss |
ORPHA:520 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intoleranc... |
OMIM:608612 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Failure to thrive, Uterine ne... |
ORPHA:1018 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Cachexia |
OMIM:175500 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Immunodeficiency 31C |
|
Diabetes mellitus, Hypothyroidism, Delayed puberty, Weight loss |
OMIM:614162 |
| Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
| Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Weight loss, Azoospermia, Decreased f... |
ORPHA:84 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Familial Thrombocytosis |
|
Weight loss, Hyperhidrosis |
ORPHA:71493 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Thyroiditis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Nod... |
ORPHA:79078 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... |
OMIM:608594 |
| Polymyositis |
|
Weight loss |
ORPHA:732 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... |
ORPHA:37042 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Hypohidrosis, Weight loss, Pri... |
OMIM:219800 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis, Uterine neoplasm |
ORPHA:109 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Orthostatic hypotension, Hypoglycemia |
ORPHA:230 |
| Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology, Pancreatitis, Weight loss |
ORPHA:537 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Cachexia |
OMIM:610965 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... |
OMIM:269700 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Weight loss |
ORPHA:20 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hirsutism |
OMIM:613327 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Weight loss, Abnormality of the hypothalamus-pituitary axis, Prostatitis, Pan... |
ORPHA:900 |
| Leprechaunism |
|
Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Cent... |
ORPHA:508 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Stevens-Johnson Syndrome |
|
Dyspareunia, Pancreatitis, Weight loss |
ORPHA:36426 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Rat-Bite Fever |
|
Pancreatitis, Parotitis, Weight loss |
ORPHA:31205 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Pulmonary Alveolar Microlithiasis |
|
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss |
ORPHA:60025 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Primary Sclerosing Cholangitis |
|
Thyroiditis, Weight loss, Neoplasm of the gallbladder, Type I diabetes mellitus, Cholelithiasis, ... |
ORPHA:171 |
| Brucellosis |
|
Small for gestational age, Orchitis, Epididymitis, Hyperhidrosis, Weight loss, Failure to thrive |
ORPHA:1304 |
| Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Increased serum serotonin, Weight loss |
ORPHA:100078 |
| Trisomy 18 |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Cachexia |
ORPHA:3380 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal adrenal morphology, Weight loss |
ORPHA:284 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Alopecia, Sparse scalp hair, Impaired glucose tolerance, Insulin-resistant diabetes... |
OMIM:248370 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... |
ORPHA:79474 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Weight loss |
ORPHA:79430 |
| Caroli Disease |
|
Cholelithiasis, Weight loss |
ORPHA:53035 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| Schwartz-Jampel Syndrome |
|
Testicular torsion, Decreased testicular size, Cachexia, Decreased body weight |
ORPHA:800 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Behçet Disease |
|
Orchitis, Pancreatitis, Weight loss |
ORPHA:117 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis, Pancr... |
ORPHA:449395 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Weight loss |
OMIM:615846 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
| Postinfectious Vasculitis |
|
Orchitis, Weight loss |
ORPHA:48435 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Cachexia |
ORPHA:1969 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulin... |
ORPHA:99413 |
| Turner Syndrome |
|
Alopecia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulin... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Alopecia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulin... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulin... |
ORPHA:99226 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Q Fever |
|
Weight loss |
ORPHA:781 |
| Nocardiosis |
|
Abnormality of the adrenal glands, Thyroiditis, Weight loss |
ORPHA:31204 |
| Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Weight loss, Hypoplastic male external genitalia, Se... |
ORPHA:740 |
| Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology, Enlarged lacrimal g... |
ORPHA:797 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Anoperineal fistula, Weight loss |
OMIM:301074 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Cockayne Syndrome |
|
Anhidrosis, Diabetes mellitus, Cachexia, Cryptorchidism, Absence of pubertal development, Delayed... |
ORPHA:191 |
| Camurati-Engelmann Disease |
|
Slender build, Hypogonadism, Cachexia, Delayed puberty |
ORPHA:1328 |
| Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
| Mucolipidosis Type Ii |
|
Weight loss |
ORPHA:576 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Freckled genitalia |
ORPHA:79076 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to th... |
ORPHA:649 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Azoospermia, Cholelithiasis, Cachexia, Delayed puberty |
ORPHA:2072 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Enlarged lacrimal glands, Weight loss |
OMIM:181000 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Neoplasm of the t... |
ORPHA:744 |
| Chronic Graft Versus Host Disease |
|
Weight loss, Abnormal vagina morphology, Xerostomia, Phimosis |
ORPHA:99921 |
| Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Weight loss |
ORPHA:50918 |
| Dermatomyositis |
|
Weight loss |
ORPHA:221 |
| Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Weight loss |
OMIM:619381 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
| Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
| Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
