Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
thyrotropin releasing hormone receptor
Synonyms:
TRH-R1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Trhr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Trhr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 level, Reduced TSH response to thyrotrophin-releasing hormone stimulatio... OMIM:618573
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832

The table below shows human diseases predicted to be associated to Trhr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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