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
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test OMIM:618573

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