| Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... |
OMIM:609698 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
| Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... |
OMIM:301077 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
| Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
| Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism |
OMIM:262700 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia |
OMIM:615999 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
| Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Hypothyroidism |
OMIM:268040 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Decreased s... |
OMIM:618157 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
| Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol |
OMIM:618723 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus |
ORPHA:411593 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level |
OMIM:311360 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone |
OMIM:188570 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Anxiety, Hyperglycemia |
OMIM:618970 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... |
OMIM:614450 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
| Hawkinsinuria |
|
Hypothyroidism, Failure to thrive |
ORPHA:2118 |
| Premature Ovarian Failure 9 |
|
Increased circulating gonadotropin level |
OMIM:615724 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... |
OMIM:275000 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618014 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism |
OMIM:616113 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618086 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Wolfram-Like Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Central diab... |
ORPHA:411590 |
| Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... |
OMIM:176400 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
| Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
| Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... |
ORPHA:1332 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level |
OMIM:233300 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism |
OMIM:301033 |
| Functioning Gonadotropic Adenoma |
|
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... |
ORPHA:91348 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Failure to thrive, Congenital hypothyroidism |
ORPHA:96183 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol |
OMIM:616185 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism |
OMIM:616784 |
| Diencephalic Syndrome |
|
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Hyperhidrosis |
ORPHA:1672 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
| Pituicytoma |
|
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... |
ORPHA:251623 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:619938 |
| Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Immunodeficiency 31C |
|
Hypothyroidism, Delayed puberty, Diabetes mellitus |
OMIM:614162 |
| Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Decreased serum e... |
OMIM:615723 |
| Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Decreased ... |
OMIM:619834 |
| Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
| Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... |
ORPHA:96369 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Decreased serum estradio... |
OMIM:619665 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Adrenal insufficiency, A... |
ORPHA:91349 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Goiter, Weight loss, Hyperthyroidism |
OMIM:613239 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus |
ORPHA:30925 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
| Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... |
ORPHA:424 |
| Athyreosis |
|
Hypothyroidism, Thyroid agenesis |
ORPHA:95713 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Male hypogonadism |
OMIM:618625 |
| Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
| Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Moynahan Syndrome |
|
Cachexia, Hypogonadism |
ORPHA:2574 |
| Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypopl... |
ORPHA:95496 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Weight loss, Hyperthyroidism |
OMIM:188580 |
| Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter |
OMIM:255900 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399805 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
| Hypogonadism-Cataract Syndrome |
|
Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogonadism |
OMIM:240950 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obesity, Pseudohypo... |
OMIM:612462 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test |
OMIM:618573 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Diabetes m... |
ORPHA:77296 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight loss, Thyroid hyp... |
ORPHA:99819 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism |
OMIM:619851 |
| Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimulation test |
OMIM:618347 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Depression, Macronodular adrenal hyperplasia, Increased uri... |
OMIM:615954 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia |
OMIM:225250 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
| Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated... |
OMIM:612885 |
| Premature Ovarian Failure 18 |
|
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Elevated c... |
OMIM:619203 |
| 46,Xy Sex Reversal 11 |
|
Decreased serum testosterone concentration, Absence of pubertal development, Elevated circulating... |
OMIM:273250 |
| Bullous Pemphigoid |
|
Weight loss, Diabetes mellitus |
ORPHA:703 |
| Thyroid Lymphoma |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism |
ORPHA:97285 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus |
ORPHA:95626 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism |
ORPHA:2349 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Decreased circula... |
ORPHA:95715 |
| Glutaric Aciduria Iii |
|
Failure to thrive, Goiter, Hyperthyroidism |
OMIM:231690 |
| Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Diabetes mellitus |
ORPHA:90003 |
| Spermatogenic Failure 75 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:619949 |
| Gangliocytoma |
|
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... |
ORPHA:251937 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypothyroidism, Failure to thrive, Overweight, Diabetes mellitus |
ORPHA:391372 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obesity, Pseudohypo... |
OMIM:103580 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... |
ORPHA:226313 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Absence of secondary sex characteristics, Secondary growth hormon... |
ORPHA:2410 |
| Lig4 Syndrome |
|
Hypothyroidism, Failure to thrive |
OMIM:606593 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism |
OMIM:301035 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Isaacs Syndrome |
|
Weight loss, Hyperhidrosis |
ORPHA:84142 |
| Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... |
ORPHA:90673 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Failure to thrive |
OMIM:618999 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy, Neoplasm of the thyroid gland |
ORPHA:388 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
| Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Elevated circulating growth hormone concentration, Pituit... |
ORPHA:95613 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Irritability, Ketotic hypoglycemia |
ORPHA:2089 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Permanent Congenital Hypothyroidism |
|
Thyroid dysgenesis, Goiter, Hypothyroidism |
ORPHA:226292 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Goiter, Thyroid carcinoma |
ORPHA:705 |
| Hyperthyroidism, Nonautoimmune |
|
Goiter, Thyroid hyperplasia, Hyperthyroidism, Small for gestational age |
OMIM:609152 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Diabetes insipidus |
ORPHA:178029 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism |
OMIM:613970 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Diabetes mellitus |
ORPHA:317 |
| Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Hypogonadotropic hypogonadism |
ORPHA:752 |
| Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
| Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Failure to thrive, Small for gestational age |
OMIM:610883 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... |
ORPHA:3143 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism |
OMIM:617713 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
| Cystinosis |
|
Failure to thrive, Nephrogenic diabetes insipidus, Hypothyroidism, Type I diabetes mellitus, Dela... |
ORPHA:213 |
| Ddost-Cdg |
|
Primary hypothyroidism, Failure to thrive |
ORPHA:300536 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormon... |
OMIM:229070 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:614324 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:2994 |
| Stiff Person Spectrum Disorder |
|
Hypothyroidism, Hyperhidrosis, Diabetes mellitus |
ORPHA:3198 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618187 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... |
OMIM:240300 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Decreased body weight |
OMIM:607906 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Congenital hypothyroidism |
OMIM:275100 |
| Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism |
ORPHA:2491 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... |
OMIM:221750 |
| Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age |
OMIM:256300 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Delayed puberty, Small for gestational age |
OMIM:616817 |
| Fucosidosis |
|
Hypothyroidism, Failure to thrive, Acrocyanosis, Hyperhidrosis |
ORPHA:349 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Small for gestational age, Hypothyroidism, Delayed puberty, Diabetes mellitus |
ORPHA:391408 |
| Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Li-Campeau Syndrome |
|
Hypothyroidism |
OMIM:619189 |
| Thymic Carcinoma |
|
Weight loss, Neoplasm of the thymus, Hyperhidrosis |
ORPHA:99868 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hy... |
ORPHA:465508 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis |
ORPHA:83601 |
| Flynn-Aird Syndrome |
|
Cachexia, Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus |
ORPHA:2047 |
| Poems Syndrome |
|
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... |
ORPHA:2905 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism |
OMIM:603373 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399808 |
| Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism |
ORPHA:48377 |
| Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
| Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Euthyroid goiter, Hypothyroidism, Hashimoto t... |
ORPHA:64744 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:86893 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... |
ORPHA:226307 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Elevated circulating growth hormone concentration, Increased circulati... |
ORPHA:97287 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism |
OMIM:619908 |
| Omenn Syndrome |
|
Hypothyroidism, Failure to thrive, Thyroiditis |
ORPHA:39041 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypohidrosis, Hypothyro... |
ORPHA:363528 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Goiter, Weight loss, Anaplastic thyroid carcinoma |
ORPHA:142 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... |
ORPHA:163976 |
| B4Galt1-Cdg |
|
Hypothyroidism, Small for gestational age |
ORPHA:79332 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Failure to thrive, Type I diabetes mellitus |
OMIM:304790 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin level, Weight ... |
ORPHA:171876 |
| Central Precocious Puberty |
|
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Hypo... |
ORPHA:759 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism, Hypercapnia |
ORPHA:505395 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Decreased circulating T4 concentration, Precocious puberty, Central adrenal in... |
ORPHA:98754 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism, Failure to thrive in infancy |
OMIM:618829 |
| Methimazole Embryofetopathy |
|
Hypothyroidism, Abnormality of the thyroid gland |
ORPHA:1923 |
| Adiposis Dolorosa |
|
Hypothyroidism, Obesity, Xerostomia |
ORPHA:36397 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... |
OMIM:300869 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Failure to thrive |
OMIM:608104 |
| Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Decreased circulating T4 concentration, Precocious puberty, Central adrenal in... |
ORPHA:98793 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism |
OMIM:619013 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Decreased circulating T4 concentration, Precocious puberty, Central adrenal in... |
ORPHA:177904 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:612310 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
| Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Decreased circulating T4 concentration, Precocious puberty, Central adrenal in... |
ORPHA:177901 |
| Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:98293 |
| Mody |
|
Glucose intolerance, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin concentration, H... |
ORPHA:552 |
| Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hypothyroidism, Neonatal insulin-depend... |
ORPHA:1667 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Failure to thrive, Small for gestational age |
OMIM:619147 |
| Timothy Syndrome |
|
Hypothyroidism |
OMIM:601005 |
| Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
| Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:612964 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Diabetes m... |
ORPHA:456312 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hypothyroidism, Exocrine pancreatic insufficiency, Type I diabetes mellitus, Delayed puberty |
OMIM:615952 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Central hypothyroidism |
ORPHA:514 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Type I diabetes mellitus |
ORPHA:1979 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Secondary Short Bowel Syndrome |
|
Primary hypothyroidism, Failure to thrive, Weight loss, Central hypothyroidism |
ORPHA:95427 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type II diabetes mellitus, Pancreatitis, Delayed menarche, Hypothyroidism, Type I diabetes mellit... |
ORPHA:412057 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hypothyroidism, Overweight, Small for gestational age |
OMIM:617796 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Small for gestational age |
ORPHA:397590 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age |
ORPHA:69665 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypohidrosis, Hypothyroidism |
ORPHA:1563 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin-resistant diabetes mellit... |
OMIM:604367 |
| Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Diabetes mellitus, Hypogonadism |
ORPHA:98673 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimulation test |
OMIM:609053 |
| Wolman Disease |
|
Adrenal insufficiency, Cachexia, Adrenal calcification |
ORPHA:75233 |
| Prader-Willi-Like Syndrome |
|
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... |
ORPHA:398073 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Type I diabetes mellitus, Failure to thrive in infancy, Thyroiditis |
OMIM:606367 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypothyroidism, Hypogonadism |
OMIM:617575 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypothyroidism, Type I diabetes mellitus, Hashimoto thyroiditis, Failure to thrive in infancy |
OMIM:613385 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Hypothyroidism, Goiter, Thyroid adenoma, Thyroiditis |
OMIM:615108 |
| Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cachexia, Hypogonadism |
ORPHA:97229 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Hypothyroidism, Failure to thrive, Panhypopituitarism, Decreased response to growth hormone stimu... |
OMIM:618922 |
| Meningioma |
|
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... |
ORPHA:2495 |
| Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
| Dysbetalipoproteinemia |
|
Hypothyroidism, Obesity, Acute pancreatitis, Diabetes mellitus |
ORPHA:412 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... |
OMIM:269200 |
| 4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... |
ORPHA:289494 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism |
OMIM:619750 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
| Tropical Pancreatitis |
|
Weight loss, Maternal diabetes, Chronic calcifying pancreatitis, Insulin-dependent but ketosis-re... |
ORPHA:103918 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Absen... |
ORPHA:163971 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398079 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypothyroidism, Type I diabetes mellitus, Failure to thrive in infancy, Thyroiditis |
ORPHA:228426 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Hypothyroidism, Goiter, Thyroid adenoma, Thyroiditis |
OMIM:615109 |
| Vipoma |
|
Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating gr... |
ORPHA:97282 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Delayed puberty, Obesity, Failure to thrive in infancy |
ORPHA:819 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Allan-Herndon-Dudley Syndrome |
|
Abnormality of thyroid physiology, Failure to thrive in infancy, Decreased body mass index, Small... |
ORPHA:59 |
| Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Congenital hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:601427 |
| Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
| Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... |
ORPHA:739 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:300068 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... |
ORPHA:231226 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism, Small for gestational age |
OMIM:618440 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Decreased response to growth hormone stimulation test, Compensat... |
OMIM:610978 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Hypoinsulinemia |
ORPHA:2126 |
| Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypothyroidism, H... |
ORPHA:442 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Obesity... |
ORPHA:457059 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Failure to thrive, Type I diabetes mellitus, Thyroiditis |
OMIM:614700 |
| Tsh-Secreting Pituitary Adenoma |
|
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... |
ORPHA:91347 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Obesity, Precocious puberty |
ORPHA:254346 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypothyroidism, Hyperthyroidism, Diabetes mellitus |
ORPHA:449291 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Small for gesta... |
OMIM:101800 |
| Ring Chromosome 12 Syndrome |
|
Hypothyroidism, Small for gestational age |
ORPHA:1439 |
| Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
| Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimulation test, I... |
ORPHA:90793 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Failure to thrive, Delayed puberty, Diabetes mellitus |
OMIM:616263 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Weight loss, Episodic hyperhidrosis, Paraganglioma |
ORPHA:94080 |
| Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic... |
ORPHA:2298 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism |
ORPHA:300298 |
| Seckel Syndrome 7 |
|
Central hypothyroidism |
OMIM:614851 |
| Down Syndrome |
|
Hypothyroidism, Obesity, Type II diabetes mellitus |
ORPHA:870 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased circula... |
ORPHA:100075 |
| Renpenning Syndrome |
|
Cachexia, Diabetes mellitus |
ORPHA:3242 |
| 46,Xy Sex Reversal 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:612965 |
| Isolated Biliary Atresia |
|
Failure to thrive, Severe failure to thrive, Small for gestational age, Hypothyroidism, Hypopitui... |
ORPHA:30391 |
| Aredyld Syndrome |
|
Cachexia, Type II diabetes mellitus, Type I diabetes mellitus |
ORPHA:1133 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Failure to thrive |
OMIM:618005 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Weight loss, Cachexia |
ORPHA:298 |
| Addison Disease |
|
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease... |
ORPHA:85138 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Ovarian cyst, Abnormality ... |
OMIM:228300 |
| Ppoma |
|
Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr... |
ORPHA:97278 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... |
ORPHA:231214 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Failure to thrive, Weight loss, Acute pancreatitis |
OMIM:619487 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism, Failure to thrive, Hypoxemia |
OMIM:615486 |
| Whipple Disease |
|
Hypothyroidism, Cachexia |
ORPHA:3452 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... |
ORPHA:90794 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
| Somatostatinoma |
|
Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Elevated circul... |
ORPHA:97283 |
| Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration |
OMIM:223360 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Hypothyroidism, Goiter, Thyroid adenoma, Thyroiditis |
OMIM:158350 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Hypothyroidism, Fa... |
ORPHA:769 |
| Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism |
OMIM:603736 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Diabetes mellitus, Hypogonadism |
ORPHA:231222 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Carcinoid tumor |
ORPHA:100085 |
| Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Acrocyanosis, Diabetes insipidus |
OMIM:225750 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level |
OMIM:233400 |
| Grfoma |
|
Palmoplantar hyperhidrosis, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circula... |
ORPHA:97261 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Truncal obesity, Diabetes mellitus |
OMIM:616541 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism |
ORPHA:85321 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thyroid-stimulat... |
OMIM:218700 |
| Thyroid Ectopia |
|
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid |
ORPHA:95712 |
| 49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, Decreased testicular ... |
ORPHA:261534 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormality of the endocrine system, Hyperthyroidism, Cachexia, Hypothyroidism, Type I diabetes m... |
ORPHA:37042 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
| Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Thyroid dysgenesis, Comp... |
ORPHA:209905 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Decreased serum estradiol, Male hypogon... |
ORPHA:168563 |
| Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
| Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:293939 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Small for gestational age |
OMIM:614114 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Weight loss |
OMIM:613673 |
| Thymic Aplasia |
|
Hypothyroidism, Failure to thrive, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
| Microform Holoprosencephaly |
|
Hypothyroidism, Panhypopituitarism, Maternal diabetes |
ORPHA:280200 |
| Melas |
|
Hypoparathyroidism, Failure to thrive, Type II diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:550 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Eosinophilic Fasciitis |
|
Weight loss, Acrocyanosis |
ORPHA:3165 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398069 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Thyrotoxic Periodic Paralysis |
|
Graves disease, Hyperthyroidism, Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, ... |
ORPHA:79102 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:619234 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex characteristics, Abno... |
ORPHA:785 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromoc... |
ORPHA:29072 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Alexander Disease |
|
Failure to thrive, Precocious puberty, Hypothyroidism, Diabetes mellitus, Hyperhidrosis |
ORPHA:58 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Elevated calcitonin, Decreased response to growth hormone stimulation test, Elevated circulating ... |
ORPHA:280651 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... |
ORPHA:652 |
| Frasier Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Decreased serum estradi... |
ORPHA:347 |
| Short Syndrome |
|
Weight loss, Diabetes mellitus |
ORPHA:3163 |
| Cenani-Lenz Syndrome |
|
Hypothyroidism |
ORPHA:3258 |
| Monosomy 18Q |
|
Hypothyroidism, Failure to thrive, Slender build, Secondary growth hormone deficiency |
ORPHA:1600 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism |
ORPHA:2479 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:619737 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Hyperthyroidism, Hypothyroidism, Diabetes mellitus, Goiter |
ORPHA:254892 |
| 46,Xy Sex Reversal 1 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:400044 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Pancreatitis |
ORPHA:65682 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism |
ORPHA:445038 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Increased antimullerian hormone level, Abnormal circulating f... |
ORPHA:99429 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Classic Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:391 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
| Glucagonoma |
|
Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr... |
ORPHA:97280 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Weight loss |
ORPHA:1302 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Failure to thrive, Hypothyroidism |
OMIM:212065 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:96179 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Type I diabetes mellitus, Delayed puberty, Weight loss, Thyroiditis |
OMIM:212750 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1812 |
| Malt Lymphoma |
|
Weight loss, Abnormality of the thyroid gland, Hyperhidrosis |
ORPHA:52417 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Weight loss, Small intestine carcinoid |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Weight loss, Small intestine carcinoid |
ORPHA:100077 |
| Familial Pancreatic Carcinoma |
|
Exocrine pancreatic insufficiency, Weight loss, Diabetes mellitus |
ORPHA:1333 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism |
ORPHA:66634 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Breas... |
ORPHA:3044 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
| Takayasu Arteritis |
|
Weight loss, Hyperhidrosis |
ORPHA:3287 |
| 49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, Decreased testicular ... |
ORPHA:99330 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperglycemia |
OMIM:220111 |
| Parathyroid Carcinoma |
|
Abnormality of the parathyroid morphology, Thyroid carcinoma, Pancreatitis, Parathyroid carcinoma... |
ORPHA:143 |
| Koolen-De Vries Syndrome |
|
Hypothyroidism |
ORPHA:96169 |
| Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia |
ORPHA:681 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
| Leydig Cell Hypoplasia |
|
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Femal... |
ORPHA:755 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromoc... |
ORPHA:276621 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Failure to thrive, Thyroid dysgenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Thyro... |
ORPHA:3047 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| 46,Xx Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Decreased serum estradiol, Delayed puberty, Streak ovary |
ORPHA:243 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol |
OMIM:615300 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Huntington Disease |
|
Weight loss, Decreased body mass index |
ORPHA:399 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypoxemia, Weight loss |
ORPHA:79127 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
| Peripartum Cardiomyopathy |
|
Obesity, Abnormality of thyroid physiology, Diabetes mellitus |
ORPHA:563 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Central adrenal insufficie... |
ORPHA:488632 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas ph... |
ORPHA:93111 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss, Thyroiditis |
ORPHA:139402 |
| Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto thyroiditis,... |
ORPHA:589 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Silver-Russell Syndrome |
|
Precocious puberty, Cachexia, Failure to thrive in infancy, Obesity, Premature adrenarche, Hyperh... |
ORPHA:813 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism |
ORPHA:2519 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:1855 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Failure to thrive |
ORPHA:453499 |
| Thymoma |
|
Weight loss, Neoplasm of the thyroid gland |
ORPHA:99867 |
| Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
| Tetrasomy 12P |
|
Cachexia, Hypohidrosis |
ORPHA:884 |
| Megalocornea-Mental Retardation Syndrome |
|
Primary hypothyroidism |
OMIM:249310 |
| Short Syndrome |
|
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:269880 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Abnormality of thyroid physiology, Pancreatitis, Small for gestational age |
ORPHA:1830 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypoxemia, Weight loss |
ORPHA:2902 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Central hypothyroidism |
OMIM:300912 |
| Fatal Familial Insomnia |
|
Weight loss, Hyperhidrosis |
OMIM:600072 |
| Mogs-Cdg |
|
Hypothyroidism, Inappropriate antidiuretic hormone secretion |
ORPHA:79330 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Failure to thrive in infancy |
OMIM:616801 |
| Leprechaunism |
|
Failure to thrive, Decreased body weight, Hyperinsulinemia, Increased circulating renin level, Hy... |
ORPHA:508 |
| Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Decreased response ... |
ORPHA:699 |
| Yao Syndrome |
|
Weight loss, Xerostomia |
OMIM:617321 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Weight loss, Failure... |
ORPHA:99885 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Palmoplantar hyperhidrosis, Failure to thrive, Congenital hypothyroidism |
OMIM:617527 |
| Pseudoxanthoma Elasticum |
|
Hypothyroidism |
ORPHA:758 |
| Martin-Probst Syndrome |
|
Hypothyroidism |
OMIM:300519 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Streak ovary, Hypothyroidism, Delayed puberty, Obesit... |
ORPHA:1772 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608612 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Abnormality of the thyroid gland |
ORPHA:1969 |
| Wilson Disease |
|
Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss, Precocious puberty, Pancreatitis |
ORPHA:370348 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Familial Colorectal Cancer Type X |
|
Pituitary adenoma, Weight loss, Neoplasm of the thyroid gland |
ORPHA:440437 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Small for gestational age |
ORPHA:84064 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypothyroidism, Small for gestational age, Hypogonadism |
ORPHA:221008 |
| Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Weight loss |
ORPHA:90060 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... |
ORPHA:64739 |
| Polyarteritis Nodosa |
|
