| Severe Primary Trimethylaminuria |
|
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety |
ORPHA:468726 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 level |
OMIM:615999 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Depression, Impaired glucose tolerance, Anxiety, Diabetes mellitus |
OMIM:614296 |
| Isolated Growth Hormone Deficiency, Type Ib |
|
Decreased response to growth hormone stimuation test |
OMIM:612781 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test |
OMIM:300123 |
| Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimuation test |
OMIM:262710 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased response to growth hormone stimuation test |
OMIM:173100 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... |
OMIM:300888 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Adrenocorticotropic hormone exce... |
ORPHA:100083 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... |
OMIM:619146 |
| Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
| Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... |
ORPHA:99886 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma |
OMIM:274700 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... |
OMIM:618157 |
| Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficiency |
OMIM:262700 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... |
OMIM:262400 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
| Retinohepatoendocrinologic Syndrome |
|
Hypothyroidism, Maturity-onset diabetes of the young |
OMIM:268040 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... |
OMIM:618723 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... |
OMIM:262600 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 level, Reduced TSH response to thyrotrophin-releasing hormone stimulatio... |
OMIM:618573 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide |
OMIM:274500 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Premature Ovarian Failure 9 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 |
OMIM:188570 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
| Post-Traumatic Pituitary Deficiency |
|
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Delayed puberty, ... |
ORPHA:95619 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus |
ORPHA:411593 |
| Pituicytoma |
|
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... |
ORPHA:251623 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Anxiety |
OMIM:618970 |
| Hawkinsinuria |
|
Hypothyroidism, Failure to thrive |
ORPHA:2118 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Increa... |
OMIM:614450 |
| Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies |
|
Anterior hypopituitarism, Decreased response to growth hormone stimuation test |
OMIM:208080 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance |
OMIM:307500 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Elevated circulating growth hormone concentration, Pituitary adenoma |
OMIM:300943 |
| Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism |
OMIM:616113 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Goiter, Small for gestational age |
OMIM:274300 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimuation test |
OMIM:615925 |
| Isolated Growth Hormone Deficiency, Type V |
|
Microcephaly, Decreased response to growth hormone stimuation test |
OMIM:618160 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618086 |
| Wolfram-Like Syndrome |
|
Male hypogonadism, Hypothyroidism, Delayed puberty, Diabetes mellitus, Central diabetes insipidus... |
ORPHA:411590 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... |
OMIM:619326 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stimuation test |
OMIM:616784 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... |
ORPHA:231720 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
| Medullary Thyroid Carcinoma |
|
Elevated calcitonin, Pheochromocytoma, Weight loss, Hyperhidrosis, Primary hyperparathyroidism, N... |
ORPHA:1332 |
| Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Microcephaly, Cerebral calcification, Decreased response to growth hormone stimuation test |
ORPHA:1261 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level |
OMIM:233300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:88643 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism, Failure to thrive |
ORPHA:96183 |
| Functioning Gonadotropic Adenoma |
|
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Increased serum testo... |
ORPHA:91348 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior pituitary hypoplasia, Gonadotropin deficiency, Anterior hypopituitarism, Decreased respo... |
OMIM:221750 |
| Hyperthyroidism, Familial Gestational |
|
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism |
OMIM:603373 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:275200 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimuation test |
OMIM:618347 |
| Diencephalic Syndrome |
|
Hyperhidrosis, Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight |
ORPHA:1672 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm |
OMIM:615723 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... |
ORPHA:99832 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal hypoplasia, Decreased response to growth hormone stimuation test, Adrenal insufficiency, ... |
OMIM:609734 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
| Panhypophysitis |
|
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... |
ORPHA:95513 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Adenohypophysitis |
|
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... |
ORPHA:95512 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... |
ORPHA:1227 |
| Immunodeficiency 31C |
|
Hypothyroidism, Delayed puberty, Diabetes mellitus |
OMIM:614162 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Pandas |
|
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... |
ORPHA:66624 |
| Early-Onset Schizophrenia |
|
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... |
ORPHA:96369 |
| Non-Functioning Pituitary Adenoma |
|
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... |
ORPHA:91349 |
| Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Hyperhidrosis, Weight loss |
OMIM:275000 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... |
ORPHA:97289 |
| Ane Syndrome |
|
Abnormal response to ACTH stimulation test, Hypogonadotropic hypogonadism, Adrenocorticotropin de... |
ORPHA:157954 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Small for gestationa... |
ORPHA:424 |
| Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... |
ORPHA:95716 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
| Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Male hypogonadism |
OMIM:618625 |
| Myxedema |
|
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis |
OMIM:255900 |
| Pituitary Stalk Interruption Syndrome |
|
Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Delayed puberty, Failure to thri... |
ORPHA:95496 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... |
ORPHA:71526 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:613239 |
| Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
| Adrenocortical Carcinoma |
|
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... |
ORPHA:1501 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... |
OMIM:610755 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:188580 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Increased circulating gonadotropin level |
ORPHA:399805 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Breast hypoplasia, Anterior hypopituitarism, Absence of secondary sex characteristics, Hypothalam... |
ORPHA:2235 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Pseudohypoparathyroidism, Type Ic |
|
Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hormone level, Hypogon... |
OMIM:612462 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with ... |
ORPHA:99819 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Congenital hypothyroidism, Precocious puberty, Failure to thrive |
OMIM:614736 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia |
OMIM:225250 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Hypoplasia... |
OMIM:619203 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Elevated circulating follicle stimulating hormone level, Male hypogonadism |
OMIM:240950 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Cerebral calcification, Decreased response to growth hormone stimuation test |
OMIM:225755 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased antimullerian hormone... |
OMIM:273250 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Thyroid Lymphoma |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism |
ORPHA:97285 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... |
OMIM:102200 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Increased circ... |
ORPHA:91354 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism |
ORPHA:2349 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Glutaric Aciduria Iii |
|
Goiter, Hyperthyroidism, Failure to thrive |
OMIM:231690 |
| Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hormone level, Hypogon... |
OMIM:103580 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:145650 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... |
ORPHA:2410 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... |
ORPHA:453533 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... |
ORPHA:300385 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:612885 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimuation test |
OMIM:245590 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased circulating T4 level, Abnormality of thyroid physiology, Reduced radioactive iodine upt... |
ORPHA:95715 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
| Gangliocytoma |
|
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... |
ORPHA:251937 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Delay... |
OMIM:614963 |
| Lig4 Syndrome |
|
Hypothyroidism, Failure to thrive |
OMIM:606593 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Failure to thrive |
OMIM:618999 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypothyroidism, Diabetes mellitus, Overweight, Failure to thrive |
ORPHA:391372 |
| Pituitary Apoplexy |
|
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... |
ORPHA:95613 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
| Familial Glucocorticoid Deficiency |
|
Impaired cortisol response to insulin stimulation test, Decreased circulating dehydroepiandroster... |
ORPHA:361 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... |
ORPHA:90673 |
| Pituitary Hormone Deficiency, Combined, 1 |
|
Hypothyroidism |
OMIM:613038 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
| Isaac Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Goiter, Hyperthyroidism, Thyroid hyperplasia |
OMIM:609152 |
| Pendred Syndrome |
|
Thyroid carcinoma, Hypothyroidism, Goiter, Hyperparathyroidism |
ORPHA:705 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Weight loss, Failure to thrive in infancy |
ORPHA:388 |
| Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:352530 |
| Oliver-Mcfarlane Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Delayed puberty, Decreased response to growth horm... |
OMIM:275400 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Postprandial hyperglycemia, Irritability, Glycosuria |
ORPHA:2089 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Hypothyroidism |
ORPHA:752 |
| Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... |
ORPHA:67045 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Septooptic Dysplasia |
|
Absent septum pellucidum, Anterior pituitary hypoplasia, Diabetes insipidus, Agenesis of corpus c... |
OMIM:182230 |
| Central Diabetes Insipidus |
|
Diabetes insipidus, Failure to thrive, Weight loss |
ORPHA:178029 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Weight loss |
ORPHA:317 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... |
ORPHA:3143 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Failure to thrive |
OMIM:608104 |
| Myasthenic Syndrome, Congenital, 22 |
|
Decreased response to growth hormone stimuation test |
OMIM:616224 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Diabetes mellitus, Obesity |
OMIM:614613 |
| Stiff Person Spectrum Disorder |
|
Hypothyroidism, Diabetes mellitus, Hyperhidrosis |
ORPHA:3198 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618187 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:2994 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating parathyroid hormone level, Male hypogonadism, Primary adrenal insufficiency... |
OMIM:240300 |
| Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age |
OMIM:256300 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism |
ORPHA:2491 |
| Sheehan Syndrome |
|
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Breast hypoplasia, Decre... |
ORPHA:91355 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism |
OMIM:617713 |
| Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Congenital hypothyroidism |
OMIM:275100 |
| Cystinosis |
|
Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, Type I diabetes mellitus, Failur... |
ORPHA:213 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Delayed puberty, Small for gestational age |
OMIM:616817 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebral atrophy, Decreased response to growth hormone stimuation test |
OMIM:616430 |
| Ddost-Cdg |
|
Failure to thrive, Primary hypothyroidism |
ORPHA:300536 |
| Non-Acquired Panhypopituitarism |
|
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... |
ORPHA:90695 |
| Fucosidosis |
|
Acrocyanosis, Hypothyroidism, Hyperhidrosis, Failure to thrive |
ORPHA:349 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Decreased body weight, Delayed puberty, Small for gestational age, Diabetes mellitus |
ORPHA:391408 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis |
ORPHA:83601 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Small for gestational age, Failure to thrive |
OMIM:610883 |
| Thymic Carcinoma |
|
Hyperhidrosis, Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... |
ORPHA:163976 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Decreased serum testosterone concentration, Testicular atrophy, Hypo... |
ORPHA:465508 |
| Poems Syndrome |
|
Acrocyanosis, Primary adrenal insufficiency, Hypothyroidism, Weight loss, Increased circulating p... |
ORPHA:2905 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism |
ORPHA:48377 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... |
ORPHA:226307 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
| Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Abnormality of the thyroid gland, Cachexia, Type II diabetes mellitus |
ORPHA:2047 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Increased circulating gonadotropin level |
ORPHA:399808 |
| Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimuation test |
ORPHA:324737 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss |
ORPHA:86893 |
| Li-Campeau Syndrome |
|
Hypothyroidism |
OMIM:619189 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... |
OMIM:203800 |
| Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612964 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Type I diabetes mellitus, Failure to thrive |
OMIM:304790 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:612310 |
| Adiposis Dolorosa |
|
Hypothyroidism, Xerostomia, Obesity |
ORPHA:36397 |
| Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Increased circulating gonadotropin level, Premature thelarche, Isosexual ... |
ORPHA:759 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss, Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
| Omenn Syndrome |
|
Thyroiditis, Hypothyroidism, Failure to thrive |
ORPHA:39041 |
| Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Increase... |
ORPHA:97287 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss, Increased circulating renin level, Glucocortocoid-inse... |
ORPHA:171876 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... |
OMIM:300869 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism |
OMIM:619013 |
| Methimazole Embryofetopathy |
|
Hypothyroidism, Abnormality of the thyroid gland |
ORPHA:1923 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism, Hypercapnia |
ORPHA:505395 |
| Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimuation test |
OMIM:609053 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Congenital hypothyroidism, Decreased response to growth hormone stimuation test |
OMIM:601427 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... |
ORPHA:98754 |
| Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Goiter, Weight loss, Nodular goiter |
ORPHA:142 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Small for gestational age |
ORPHA:397590 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... |
ORPHA:98793 |
| Wolfram Syndrome 1 |
|
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism |
OMIM:222300 |
| Zollinger-Ellison Syndrome |
|
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... |
ORPHA:913 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor... |
OMIM:174800 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... |
ORPHA:177904 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hypothyroidism, Delayed puberty, Type I diabetes mellitus, Exocrine pancreatic insufficiency |
OMIM:615952 |
| Late-Onset Isolated Acth Deficiency |
|
Graves disease, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insuffici... |
ORPHA:199299 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Hypothyroidism, Failure to thrive, Decreased response to growth hormone stimu... |
OMIM:618922 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... |
ORPHA:177901 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypothyroidism, Hypoparathyroidism, Hypohidrosis |
ORPHA:1563 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Weight loss |
ORPHA:514 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Type II diabete... |
OMIM:269200 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Small for gestational age, Failure to thrive |
OMIM:619147 |
| Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Central hypothyroidism, Decreased body weight,... |
ORPHA:1667 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Type I diabetes mellitus, Type II diabetes mellitus, Pancreatitis, Hypogonadism, ... |
ORPHA:412057 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Failure to thrive, Hypoxemia,... |
ORPHA:456312 |
| Timothy Syndrome |
|
Hypothyroidism |
OMIM:601005 |
| Mehmo Syndrome |
|
Male hypogonadism, Hypoplasia of the corpus callosum, Delayed puberty, Microcephaly, Decreased re... |
OMIM:300148 |
| Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss |
ORPHA:98293 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism, Failure to thrive |
OMIM:615486 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Central hypothyroidism, Primary hypothyroidism, Weight loss |
ORPHA:95427 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Cachexia, Weight loss |
ORPHA:1979 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Failure to thrive in infancy |
OMIM:606367 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pellucidum, Abs... |
ORPHA:95494 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Hypogonadism, Diabetes mellitus |
ORPHA:98673 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... |
ORPHA:163971 |
| 4H Leukodystrophy |
|
Abnormality of thyroid physiology, Delayed puberty, Decreased response to growth hormone stimuati... |
ORPHA:289494 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypogonadism, Hypothyroidism |
OMIM:617575 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypohidrosis, Decreased serum insulin-like growth factor 1, Hypothyroidism, Failure to thrive, De... |
ORPHA:363528 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age |
ORPHA:69665 |
| Prader-Willi-Like Syndrome |
|
Abnormality of the endocrine system, Premature pubarche, Premature adrenarche, Decreased circulat... |
ORPHA:398073 |
| Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
| Meningioma |
|
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:2495 |
| Mody |
|
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... |
ORPHA:552 |
| Cowden Syndrome 5 |
|
Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroidism |
OMIM:615108 |
| Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Hypogonadism, Cachexia |
ORPHA:97229 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituit... |
ORPHA:398079 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism, Failure to thrive in infancy |
OMIM:618829 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor |
ORPHA:100082 |
| Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification, Cachexia |
ORPHA:75233 |
| Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Hypothyroidism, Diabetes mellitus, Obesity |
ORPHA:412 |
| Genetic Transient Congenital Hypothyroidism |
|
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... |
ORPHA:226316 |
| Carney Complex |
|
Pituitary growth hormone cell adenoma, Increased urinary cortisol level, Ovarian cyst, Elevated c... |
ORPHA:1359 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis, Failure to thrive in infancy |
OMIM:613385 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Anterior hypopituitarism... |
ORPHA:91350 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Failure to thrive in infancy |
ORPHA:228426 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Compensated hypothyroidism, Gonadotropin deficiency, Oxygen desaturation on exertion, Elevated ci... |
OMIM:610978 |
| Cowden Syndrome 6 |
|
Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroidism |
OMIM:615109 |
| Vipoma |
|
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... |
ORPHA:97282 |
| Dominant Beta-Thalassemia |
|
Hypothyroidism, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Delayed pub... |
ORPHA:231226 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Juberg-Hayward Syndrome |
|
Microcephaly, Decreased response to growth hormone stimuation test |
OMIM:216100 |
| Congenital Hypothyroidism |
|
Goiter, Hypothyroidism, Abnormality of the thyroid gland, Hypogonadism, Thyroid dysgenesis, Anter... |
ORPHA:442 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal circulating dehydroepiandrosterone concentration, Abnormal response to ACTH stimulation ... |
ORPHA:90793 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300068 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Failure to thrive |
OMIM:614700 |
| Ring Chromosome 12 Syndrome |
|
Hypothyroidism, Small for gestational age |
ORPHA:1439 |
| Prader-Willi Syndrome |
|
Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gland, Decrease... |
ORPHA:739 |
| Aicardi-Goutieres Syndrome 1 |
|
Acrocyanosis, Diabetes insipidus, Hypothyroidism |
OMIM:225750 |
| Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimuation test |
OMIM:615286 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism, Small for gestational age |
OMIM:618440 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Hypothyroidism, Diabetes mellitus, Hyperthyroidism |
ORPHA:449291 |
| Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
| Smith-Magenis Syndrome |
|
Hypothyroidism, Failure to thrive in infancy, Delayed puberty, Precocious puberty, Obesity |
ORPHA:819 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Abnormal calcium-phosphate regulating hormone level, Neoplasm of the thyroid gland, Hyper... |
ORPHA:457059 |
| 46,Xy Sex Reversal 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612965 |
| Allan-Herndon-Dudley Syndrome |
|
Abnormality of thyroid physiology, Small for gestational age, Failure to thrive in infancy, Decre... |
ORPHA:59 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis |
ORPHA:300298 |
| Tsh-Secreting Pituitary Adenoma |
|
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... |
ORPHA:91347 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated circul... |
OMIM:101800 |
| Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Adrenal hypoplasia, Decreased response to growth hormone stimuation test |
OMIM:614732 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Delayed puberty, Diabetes mellitus, Failure to thrive |
OMIM:616263 |
| Rhyns Syndrome |
|
Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimuati... |
OMIM:602152 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoinsulinemia, Weight loss |
ORPHA:2126 |
| Non-Functioning Paraganglioma |
|
Episodic hyperhidrosis, Paraganglioma, Paraganglioma of head and neck, Weight loss |
ORPHA:94080 |
| Seckel Syndrome 7 |
|
Central hypothyroidism |
OMIM:614851 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Obesity |
ORPHA:254346 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Down Syndrome |
|
Hypothyroidism, Type II diabetes mellitus, Obesity |
ORPHA:870 |
| Beta-Thalassemia Major |
|
Hypothyroidism, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Delayed pub... |
ORPHA:231214 |
| Addison Disease |
|
Androgen insufficiency, Adrenal hypoplasia, Adrenal calcification, Primary adrenal insufficiency,... |
ORPHA:85138 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Cachexia, Type II diabetes mellitus |
ORPHA:1133 |
| Renpenning Syndrome |
|
Diabetes mellitus, Cachexia |
ORPHA:3242 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased circulating androgen concentration, Insulin-resistant diabetes mellitus... |
ORPHA:769 |
| Whipple Disease |
|
Hypothyroidism, Cachexia |
ORPHA:3452 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Failure to thrive |
OMIM:618005 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level |
OMIM:233400 |
| 49,Xxxyy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Abnormality of the testis size, Abno... |
ORPHA:261534 |
| Ppoma |
|
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... |
ORPHA:97278 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Abnormality of circulating leptin level, Abnorma... |
ORPHA:2298 |
| Isolated Biliary Atresia |
|
Hypothyroidism, Hypopituitarism, Small for gestational age, Failure to thrive, Severe failure to ... |
ORPHA:30391 |
| Beta-Thalassemia Intermedia |
|
Hypothyroidism, Adrenal insufficiency, Hypogonadism, Diabetes mellitus, Hypoparathyroidism |
ORPHA:231222 |
| Somatostatinoma |
|
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... |
ORPHA:97283 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Hypothyroidism, Delayed puberty, Decreased response to growth hormone stimuation test |
OMIM:619234 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism |
ORPHA:85321 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperglycemia, Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:604367 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... |
ORPHA:3464 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Cachexia, Weight loss, Hypogonadotropic hypogonadism |
ORPHA:298 |
| Cowden Syndrome 1 |
|
Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroidism |
OMIM:158350 |
| Acute Adrenal Insufficiency |
|
Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased circulating ... |
ORPHA:95409 |
| Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimuation test |
ORPHA:1263 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Hypothyroidism, Small for gestational age, Decreased response to growth hormone stimuation test |
OMIM:614114 |
| Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism |
OMIM:603736 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... |
OMIM:218700 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Truncal obesity, Diabetes mellitus |
OMIM:616541 |
| Thyroid Ectopia |
|
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid |
ORPHA:95712 |
| Grfoma |
|
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... |
ORPHA:97261 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90794 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Weight loss, Carcinoid tumor, Increased serum serotonin |
ORPHA:100085 |
| Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:293939 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Thyroiditis, Hypothyroidism, Failure to thrive in infancy, Type I diabetes mellitus, Cachexia, Hy... |
ORPHA:37042 |
| Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
| Pseudohypoparathyroidism Type 1C |
|
Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Basal ganglia calcification, Pituitary ... |
ORPHA:79444 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... |
ORPHA:90674 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
| Brain-Lung-Thyroid Syndrome |
|
Compensated hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Abnor... |
ORPHA:209905 |
| Temple Syndrome |
|
Cryptorchidism, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormo... |
ORPHA:254516 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Melas |
|
Hypothyroidism, Recurrent pancreatitis, Type I diabetes mellitus, Type II diabetes mellitus, Fail... |
ORPHA:550 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Premature pubarche, Central hypothyroidism, Hypothalamic luteinizing hormone-r... |
ORPHA:398069 |
| Neuroendocrine Tumor Of Stomach |
|
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased serum serotonin, Weight loss, Incr... |
ORPHA:100075 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... |
ORPHA:785 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Microform Holoprosencephaly |
|
Panhypopituitarism, Maternal diabetes, Hypothyroidism |
ORPHA:280200 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Decreased serum testos... |
ORPHA:168563 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
| Frasier Syndrome |
|
Hypergonadotropic hypogonadism, Decreased serum estradiol, Increased circulating gonadotropin lev... |
ORPHA:347 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Pseudohypoparathyroidism, Obesity, Congenital hypothyroidism, Elevated circulating parathyroid ho... |
ORPHA:280651 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Hypothyroidism, Failure to thrive |
OMIM:212065 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... |
ORPHA:652 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia, Precocious pub... |
OMIM:246200 |
| Webb-Dattani Syndrome |
|
Cryptorchidism, Hypoplasia of the corpus callosum, Secondary microcephaly, Pituitary hypothyroidi... |
OMIM:615926 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimuation test |
ORPHA:96179 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimuation test |
OMIM:618624 |
| 46,Xy Sex Reversal 1 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:400044 |
| Alexander Disease |
|
Hypothyroidism, Hyperhidrosis, Failure to thrive, Diabetes mellitus, Precocious puberty |
ORPHA:58 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal pheochromocytoma, Weight loss, Par... |
ORPHA:29072 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism |
ORPHA:2479 |
| Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Thyrotoxicosis with toxic single t... |
ORPHA:79102 |
| Down Syndrome |
|
Hypothyroidism |
OMIM:190685 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Cenani-Lenz Syndrome |
|
Hypothyroidism |
ORPHA:3258 |
| Pseudohypoparathyroidism Type 1A |
|
Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Basal ganglia calcification, Pituitary ... |
ORPHA:79443 |
| Short Syndrome |
|
Diabetes mellitus, Weight loss |
ORPHA:3163 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal circulating follicle-stimulating hormone concentration, Elevated circulating luteinizing... |
ORPHA:99429 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Delayed puberty, Decreased response to... |
ORPHA:280679 |
| Prolactinoma |
|
Abnormality of the pituitary gland, Male hypogonadism, Decreased circulating ACTH level, Elevated... |
ORPHA:2965 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Goiter, Hypothyroidism, Failure to thrive, Diabetes mellitus, Hyperthyroidism |
ORPHA:254892 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Abnormality of the testis size, Abno... |
ORPHA:99330 |
| 46,Xx Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Streak ovary, Delayed puberty, Decreased serum estradio... |
ORPHA:243 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Pancreatitis, Weight loss |
ORPHA:65682 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism |
ORPHA:445038 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Glucagonoma |
|
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... |
ORPHA:97280 |
| Monosomy 18Q |
|
Slender build, Hypothyroidism, Secondary growth hormone deficiency, Failure to thrive |
ORPHA:1600 |
| Classic Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss |
ORPHA:391 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... |
ORPHA:3044 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1812 |
| Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... |
ORPHA:755 |
| Familial Pancreatic Carcinoma |
|
Diabetes mellitus, Exocrine pancreatic insufficiency, Weight loss |
ORPHA:1333 |
| Celiac Disease, Susceptibility To, 1 |
|
Thyroiditis, Weight loss, Delayed puberty, Type I diabetes mellitus, Failure to thrive |
OMIM:212750 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothyroidism, Hyperthyroidism, Central adrenal insufficiency, Decreased response to growth horm... |
ORPHA:488632 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid agenesis, Hypothyroidism, Ectopic thyroid, Thyroid hypoplasia, Failure to thrive, Thyroid... |
ORPHA:3047 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Decreased serum estradiol, Increased circulating gonadotropin le... |
OMIM:615300 |
| Parathyroid Carcinoma |
|
Parathyroid carcinoma, Weight loss, Abnormality of the parathyroid morphology, Thyroid carcinoma,... |
ORPHA:143 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
| Fanconi Anemia, Complementation Group W |
|
Microcephaly, Abnormal periventricular white matter morphology, Decreased response to growth horm... |
OMIM:617784 |
| Koolen-De Vries Syndrome |
|
Hypothyroidism |
ORPHA:96169 |
| Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Increased serum serotonin, Weight loss |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Small intestine carcinoid, Increased serum serotonin, Weight loss |
ORPHA:100077 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal pheochromocytoma, Weight loss, Par... |
ORPHA:276621 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism |
ORPHA:66634 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimuation test |
ORPHA:436174 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimuation test |
ORPHA:1855 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Hyperhidrosis, Weight loss |
ORPHA:52417 |
| Marburg Hemorrhagic Fever |
|
Pancreatitis, Weight loss |
ORPHA:99826 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
| Takayasu Arteritis |
|
Hyperhidrosis, Weight loss |
ORPHA:3287 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Decreased response to growth hormone s... |
OMIM:300845 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia |
OMIM:220111 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Microcephaly, Decreased response to growth hormone stimuation test |
ORPHA:457240 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Hypoxemia, Weight loss |
ORPHA:1302 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Diabetes mellitus, Abnormality of exocrine pancreas physiology, Abnormality of en... |
ORPHA:93111 |
| Solitary Median Maxillary Central Incisor |
|
Microcephaly, Anterior hypopituitarism, Decreased response to growth hormone stimuation test |
OMIM:147250 |
| Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimuation test |
OMIM:606407 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Myasthenia Gravis |
|
Acrocyanosis, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormality ... |
ORPHA:589 |
| Drug Rash With Eosinophilia And Systemic Symptoms |
|
Thyroiditis, Weight loss |
ORPHA:139402 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism |
ORPHA:2519 |
| Megalocornea-Mental Retardation Syndrome |
|
Primary hypothyroidism |
OMIM:249310 |
| Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... |
ORPHA:562 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Failure to thrive |
ORPHA:453499 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating ACTH level, Decreased circulating androgen concentration, Adrenocorticotrop... |
ORPHA:293978 |
| Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
| Silver-Russell Syndrome |
|
Premature adrenarche, Failure to thrive in infancy, Hyperhidrosis, Cachexia, Precocious puberty, ... |
ORPHA:813 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormality of thyroid physiology, Small for gestational age, Failure to thrive |
ORPHA:1830 |
| Xfe Progeroid Syndrome |
|
Cachexia |
OMIM:610965 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Leprechaunism |
|
Hyperinsulinemia, Central hypothyroidism, Decreased body weight, Hyperaldosteronism, Increased ci... |
ORPHA:508 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Pseudohypoparathyroidism Type 1B |
|
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Elevated circulating parathyro... |
ORPHA:94089 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Congenital hypothyroidism, Palmoplantar hyperhidrosis, Failure to thrive |
OMIM:617527 |
| Cryptosporidiosis |
|
Pancreatitis, Hypoxemia, Failure to thrive, Weight loss |
ORPHA:1549 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Hypothyroidism, Streak ovary, Delayed puberty, Decrease... |
ORPHA:1772 |
| Tetrasomy 12P |
|
Hypohidrosis, Cachexia |
ORPHA:884 |
| Digeorge Syndrome |
|
Decreased circulating parathyroid hormone level, Hypothyroidism, Parathyroid hypoplasia, Parathyr... |
OMIM:188400 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypohidrosis, Premature adrenarche, Central hypothyroidism, Decreased response to growth hormone ... |
ORPHA:293987 |
| Yao Syndrome |
|
Xerostomia, Weight loss |
OMIM:617321 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Adrenal insufficiency, Small for gestational a... |
ORPHA:699 |
| Short Syndrome |
|
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Mental Retardation, X-Linked, Syndromic, Martin-Probst Type |
|
Hypothyroidism |
OMIM:300519 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic ... |
ORPHA:99885 |
| Fatal Familial Insomnia |
|
Hyperhidrosis, Weight loss |
OMIM:600072 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypothyroidism, Hypogonadism, Small for gestational age |
ORPHA:221008 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Immunodeficiency, Common Variable, 10 |
|
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Decreased response to ... |
OMIM:615577 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Hypothyroidism, Small for gestational age |
ORPHA:84064 |
| Ritscher-Schinzel Syndrome 1 |
|
Adrenal hypoplasia, Decreased response to growth hormone stimuation test |
OMIM:220210 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
