banner
Genes Phenotypes Help, News, Blog

Gene: Trhr MGI:98824

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... ORPHA:100083
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young 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
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Isolated Growth Hormone Deficiency, Type Ib
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... OMIM:612781
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Wolfram-Like Syndrome
Diabetes mellitus, Primary gonadal insufficiency, Delayed puberty, Male hypogonadism, Central dia... ORPHA:411590
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia ORPHA:411593
Hawkinsinuria
Failure to thrive, Hypothyroidism ORPHA:2118
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620211
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Hypothyroidism, Decreased response to growth hormone stimulation test, Small for ge... ORPHA:3363
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Abnormal circulating renin, Increased c... OMIM:614736
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated circulating c... ORPHA:1332
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Ovarian Dysgenesis 1
Increased circulating gonadotropin level OMIM:233300
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Maternal Uniparental Disomy Of Chromosome 9
Failure to thrive, Congenital hypothyroidism ORPHA:96183
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618096
Diencephalic Syndrome
Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Cachexia, Hyperhidrosis ORPHA:1672
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Pulmonary Blastoma
Weight loss ORPHA:64741
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Spermatogenic Failure 75
Elevated circulating follicle stimulating hormone level OMIM:619949
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... OMIM:609152
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology OMIM:615542
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... OMIM:615954
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Tuberculosis
Weight loss ORPHA:3389
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... OMIM:618187
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Gne Myopathy
Hypothyroidism ORPHA:602
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Adrenal hypoplasia, Hypothyroidism, Delayed puber... ORPHA:95496
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... OMIM:620103
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... ORPHA:453533
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... OMIM:612885
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Premature Ovarian Failure 21
Streak ovary, Decreased serum estradiol, Elevated circulating follicle stimulating hormone level,... OMIM:620311
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Failure to thrive, Diabetes mellitus, Hypothyroidism ORPHA:391372
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Idiopathic Achalasia
Weight loss ORPHA:930
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Irritability, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Hypothyroidism OMIM:618999
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypothyroidism OMIM:610883
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Essential Fructosuria
Hyperglycemia ORPHA:2056
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Failure to thrive, Hypothyroidism OMIM:608104
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Erythrokeratodermia Variabilis
Diabetes mellitus, Weight loss ORPHA:317
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism OMIM:613970
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Hypogonadotropic hypogonadism ORPHA:752
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Ddost-Cdg
Failure to thrive, Primary hypothyroidism ORPHA:300536
Cystinosis
Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Failure to thrive, Hyp... ORPHA:213
Li-Campeau Syndrome
Hypothyroidism OMIM:619189
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty ORPHA:2994
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Decreased body weight OMIM:607906
Huntington Disease-Like 2
Weight loss ORPHA:98934
Ovarian Dysgenesis 3
Aplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:614324
Lig4 Syndrome
Small for gestational age, Failure to thrive, Hypothyroidism, Type II diabetes mellitus OMIM:606593
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Hypothyroidism, Delayed puberty OMIM:616817
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism OMIM:256300
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Decreased body weight, Hypothyroidism, Delayed puberty ORPHA:391408
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Fucosidosis
Acrocyanosis, Failure to thrive, Hypothyroidism, Hyperhidrosis ORPHA:349
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia ORPHA:2047
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
B4Galt1-Cdg
Small for gestational age, Hypothyroidism ORPHA:79332
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Chronic Hiccup
Weight loss ORPHA:396
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Decreased serum testosterone conce... ORPHA:465508
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hyperhidrosis ORPHA:86893
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... ORPHA:2905
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Adiposis Dolorosa
Xerostomia, Hypothyroidism, Obesity ORPHA:36397
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Hypothyroidism OMIM:304790
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... ORPHA:171876
Igg4-Related Thyroid Disease
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... ORPHA:64744
Omenn Syndrome
Failure to thrive, Hypothyroidism, Thyroiditis ORPHA:39041
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism OMIM:619908
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Failure to thrive in infancy OMIM:618829
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism, Hypercapnia ORPHA:505395
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism ORPHA:1923
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Jung Syndrome
Hypothyroidism ORPHA:2321
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Failure to thrive, Hypothyroidism OMIM:619147
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Decreased body weight, Hypo... ORPHA:1667
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Diabetes mellitus, Hypoxemia, Delayed puberty, Failure to thrive, Hypothyroidism, Exocrine pancre... ORPHA:456312
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio... ORPHA:199299
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty OMIM:615952
Intellectual Developmental Disorder, Autosomal Dominant 52
Overweight, Hypothyroidism, Small for gestational age OMIM:617796
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:614129
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... ORPHA:412057
Mulibrey Nanism
Cachexia ORPHA:2576
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Cachexia, Weight loss ORPHA:1979
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Secondary Short Bowel Syndrome
Weight loss, Failure to thrive, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypothyroidism ORPHA:397590
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypohidrosis ORPHA:1563
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Cachexia ORPHA:75233
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Diabetes mellitus, Hypothyroidism ORPHA:98673
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy OMIM:606367
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Riboflavin Transporter Deficiency
Cachexia, Hypogonadism, Diabetes insipidus ORPHA:97229
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level OMIM:617442
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:609053
Allan-Herndon-Dudley Syndrome
Decreased body mass index, Small for gestational age, Abnormality of thyroid physiology, Failure ... ORPHA:59
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Failure to thrive, Hypothyroidism, Decreased response to growth hormone stimu... OMIM:618922
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615108
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis, Failure to thrive in infancy OMIM:613385
Dysbetalipoproteinemia
Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
4H Leukodystrophy
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:289494
Smith-Magenis Syndrome
Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty, Hypothyroidism ORPHA:819
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism ORPHA:263297
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Chronic calcifying pancreatitis, Maternal diabe... ORPHA:103918
Isolated Atp Synthase Deficiency
Hypogonadism, Hypothyroidism ORPHA:254913
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Abnormality of t... ORPHA:209905
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615109
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen... ORPHA:398079
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Immunodeficiency 102
Hypothyroidism OMIM:301082
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy ORPHA:228426
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Reni Syndrome
Hypogonadism, Hypothyroidism, Adrenal insufficiency OMIM:617575
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Episodic hyperhidrosis, Paraganglioma, Weight loss ORPHA:94080
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... ORPHA:231226
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Monosomy 18P
Hypothyroidism ORPHA:1598
Huntington Disease-Like 2
Weight loss OMIM:606438
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism ORPHA:449291
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Obesity ORPHA:254346
Solitary Fibrous Tumor
Hypoinsulinemia, Weight loss ORPHA:2126
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Thyroiditis OMIM:614700
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... OMIM:101800
Oculoskeletodental Syndrome
Small for gestational age, Hypothyroidism OMIM:618440
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Renpenning Syndrome
Diabetes mellitus, Cachexia ORPHA:3242
Ring Chromosome 12 Syndrome
Small for gestational age, Hypothyroidism ORPHA:1439
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Aredyld Syndrome
Type I diabetes mellitus, Type II diabetes mellitus, Cachexia ORPHA:1133
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Neuroendocrine Tumor Of Stomach
Increased circulating ACTH level, Weight loss, Increased serum serotonin, Paraganglioma, Atypical... ORPHA:100075
Down Syndrome
Hypothyroidism, Type II diabetes mellitus, Obesity ORPHA:870
Timothy Syndrome
Hypothyroidism OMIM:601005
Isolated Biliary Atresia
Small for gestational age, Severe failure to thrive, Hypopituitarism, Failure to thrive, Hypothyr... ORPHA:30391
Vipoma
Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio... ORPHA:97282
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss ORPHA:298
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypothyroidism OMIM:618005
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplas... ORPHA:85138
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism ORPHA:231222
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Orthostatic Hypotension 1
Reduced circulating prolactin concentration OMIM:223360
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Hypothyroidism, Diabetes insipidus OMIM:225750
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insufficiency, Increase... ORPHA:95409
Interstitial Lung And Liver Disease
Hypoxemia, Failure to thrive, Hypothyroidism OMIM:615486
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... ORPHA:231214
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Failure to thrive, Hypothyroidism, Weight loss OMIM:619487
Whipple Disease
Hypothyroidism, Cachexia ORPHA:3452
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:158350
Ppoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Increased ci... ORPHA:97278
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... ORPHA:769
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Delayed puberty, Failure to thrive, Hypothyroidism, Exocrine pancreatic insuff... OMIM:616263
Somatostatinoma
Diabetes mellitus, Elevated circulating growth hormone concentration, Abnormality of the thyroid ... ORPHA:97283
Perrault Syndrome 1
Increased circulating gonadotropin level OMIM:233400
Immunodeficiency 31C
Weight loss, Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia OMIM:615986
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... ORPHA:37042
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Diabetes mellitus, Hypothyroidism OMIM:616541
Distal Xq28 Microduplication Syndrome
Hypothyroidism ORPHA:293939
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Focal Myositis
Weight loss ORPHA:48918
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Juvenile Huntington Disease
Weight loss ORPHA:248111
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism ORPHA:85321
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Grfoma
Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnormality of the thy... ORPHA:97261
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:619234
Follicular Lymphoma
Weight loss ORPHA:545
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm ORPHA:100085
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:618183
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:261534
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:29072
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Weight loss OMIM:613673
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... ORPHA:550
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... ORPHA:168563
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Pleural Mesothelioma
Weight loss ORPHA:50251
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Maternal diabetes ORPHA:280200
Mast Cell Sarcoma
Weight loss ORPHA:66661
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Xerostomia, In... ORPHA:398069
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Alexander Disease
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Failure to thrive, Hypothyroidism ORPHA:58
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Perry Syndrome
Weight loss ORPHA:178509
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism OMIM:617713
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Celiac Disease, Susceptibility To, 1
Thyroiditis, Weight loss, Delayed puberty, Type I diabetes mellitus, Failure to thrive OMIM:212750
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Pfapa Syndrome
Weight loss ORPHA:42642
Monosomy 18Q
Slender build, Failure to thrive, Hypothyroidism, Secondary growth hormone deficiency ORPHA:1600
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Short Syndrome
Diabetes mellitus, Weight loss ORPHA:3163
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss, Hyperhidrosis ORPHA:52417
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Classic Hodgkin Lymphoma
Weight loss, Hyperhidrosis ORPHA:391
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Weight loss ORPHA:65682
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Failure to thrive, Hypothyroidism, Goiter ORPHA:254892
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Weight loss ORPHA:1302
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Frasier Syndrome
Increased circulating gonadotropin level, Streak ovary, Decreased serum estradiol, Hypergonadotro... ORPHA:347
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1812
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hypergonadotropic hypogonadism, Hypothyroidism OMIM:212065
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Parathyroid Carcinoma
Primary hyperparathyroidism, Abnormal parathyroid morphology, Weight loss, Elevated circulating p... ORPHA:143
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Decreased circulating T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stimulati... OMIM:610199
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Mcdonough Syndrome
Cachexia ORPHA:2471
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:96179
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:276621
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral cryptorchidism, In... ORPHA:99429
Glucagonoma
Diabetes mellitus, Elevated circulating growth hormone concentration, Abnormality of the thyroid ... ORPHA:97280
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Takayasu Arteritis
Weight loss, Hyperhidrosis ORPHA:3287
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Dilated Cardiomyopathy With Ataxia
Hypothyroidism ORPHA:66634
Ohdo Syndrome, Sbbys Variant
Hypothyroidism OMIM:603736
Koolen-De Vries Syndrome
Hypothyroidism ORPHA:96169
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Weight loss ORPHA:79127
Familial Pancreatic Carcinoma
Weight loss, Diabetes mellitus, Exocrine pancreatic insufficiency ORPHA:1333
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Increased serum serotonin, Weight loss ORPHA:100078
49,Xyyyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:99330
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Ectopic thyroid, Failure to thrive, Hypothyroidism, Thyroid... ORPHA:3047
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... OMIM:400044
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Liposarcoma
Weight loss ORPHA:69078
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Rhabdoid Tumor
Weight loss ORPHA:69077
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Decreased body weight, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:618268
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol OMIM:615300
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism OMIM:617930
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Diabet... ORPHA:93111
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Increased circulating gonado... ORPHA:755
Christianson Syndrome
Cachexia ORPHA:85278
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... ORPHA:488632
Cap Polyposis
Weight loss ORPHA:160148
Osteosarcoma
Weight loss ORPHA:668
Huntington Disease-Like 1
Weight loss ORPHA:157941
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Hypothyroidism ORPHA:453499
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Hyperhidrosis, Premature adr... ORPHA:813
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Decreased serum estradiol, Delayed puberty ORPHA:243
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Immunodeficiency 27A
Weight loss OMIM:209950
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, Hypothyroidism ORPHA:79330
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Acrocyanosis, Hashimo... ORPHA:589
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Idiopathic Chronic Eosinophilic Pneumonia
Hypoxemia, Weight loss ORPHA:2902
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... ORPHA:562
Tetrasomy 12P
Cachexia, Hypohidrosis ORPHA:884
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Pancreatitis, Weight loss ORPHA:370348
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism ORPHA:2519
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Failure to thrive, Small for gestational age, Abnormality of thyroid physiology ORPHA:1830
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Central hypothyroidism OMIM:300912
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Neuhauser Syndrome
Primary hypothyroidism OMIM:249310
Fatal Familial Insomnia
Weight loss, Hyperhidrosis OMIM:600072
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Small for gestational age, Decreased response to growth ho... ORPHA:699
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Leprechaunism
Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circulating renin level, ... ORPHA:508
Chronic Beryllium Disease
Weight loss ORPHA:133
Diffuse Alveolar Hemorrhage
Hypoxemia, Weight loss ORPHA:90060
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, W... ORPHA:99885
Martin-Probst Syndrome
Hypothyroidism OMIM:300519
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Kaposi Sarcoma
Weight loss ORPHA:33276
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Agitation, Oral aversion, Hyperglycemia ORPHA:134
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Hypothyroidism, Small for gestational age ORPHA:221008
Pemphigus Vulgaris
Weight loss ORPHA:704
Cole Disease
Hyperglycemia OMIM:615522
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Lynch Syndrome
Pituitary adenoma, Neoplasm of the thyroid gland, Weight loss ORPHA:144
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia ORPHA:1969
Pneumocystosis
Hypoxemia, Weight loss ORPHA:723
Leishmaniasis
Weight loss ORPHA:507
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Polyarteritis Nodosa
Weight loss ORPHA:767
Syndromic Diarrhea
Small for gestational age, Hypothyroidism, Hypoplasia of the thymus ORPHA:84064
Familial Adenomatous Polyposis
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... ORPHA:733
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Thyroiditis, Delayed puberty, Failure to thrive, Hypothyroidism, Pancreatitis ORPHA:79259
Giant Cell Arteritis
Weight loss, Diabetes insipidus, Hyperhidrosis ORPHA:397
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Obesity, Cachexia, Hyperhidrosis ORPHA:85293
Abetalipoproteinemia
Failure to thrive, Hypothyroidism ORPHA:14
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Familial Colorectal Cancer Type X
Pituitary adenoma, Neoplasm of the thyroid gland, Weight loss ORPHA:440437
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypothyroidism ORPHA:411634
Nephroblastoma
Weight loss ORPHA:654
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... ORPHA:672
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Weight loss ORPHA:747
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism OMIM:607944
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Weight loss OMIM:615846
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Central hypothyroidism OMIM:300998
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism OMIM:191100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adre... ORPHA:293987
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Lymphatic Malformation 6
Hypothyroidism OMIM:616843
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Neurooculorenal Syndrome
Central hypothyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentr... OMIM:620305
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Decreased response to growth hormone stimulation test, Premature thela... ORPHA:268261
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:363958
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism ORPHA:247691
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
47,Xyy Syndrome
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Increased serum testost... ORPHA:8
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss ORPHA:85450
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism ORPHA:480864
Cystinosis, Nephropathic
Diabetes mellitus, Failure to thrive in infancy, Hypohidrosis, Weight loss, Primary hypothyroidis... OMIM:219800
Perry Syndrome
Weight loss OMIM:168605
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Rheumatoid Arthritis
Weight loss OMIM:180300
Oromandibular Dystonia
Weight loss ORPHA:93958
Scleromyxedema
Abnormality of thyroid physiology ORPHA:167635
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Aicardi-Goutières Syndrome
Acrocyanosis, Diabetes mellitus, Hypothyroidism ORPHA:51
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi... ORPHA:90797
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Lymphoid Interstitial Pneumonia
Hypoxemia, Failure to thrive, Weight loss ORPHA:79128
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Erdheim-Chester Disease
Weight loss, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyperhidrosis ORPHA:35687
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism OMIM:613254
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma ORPHA:276399
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Loeffler Endocarditis
Weight loss ORPHA:75566
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Obesity, Hypoplasia of the thymus, Failure to thrive, Hypoth... ORPHA:567
Igg4-Related Aortitis
Weight loss ORPHA:449400
Infantile Nephropathic Cystinosis
Failure to thrive, Abnormality of thyroid physiology ORPHA:411629
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism ORPHA:1556
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Microsporidiosis
Cachexia, Abnormality of the parathyroid gland, Thyroiditis, Weight loss, Adrenocortical abnormal... ORPHA:2552
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Congenital hypothyroidis... ORPHA:2255
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Ménétrier Disease
Weight loss ORPHA:2494
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss, Failure to thrive ORPHA:275761
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Hallermann-Streiff Syndrome
Hypothyroidism ORPHA:2108
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Obesity, Parathyroid hypop... OMIM:188400
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia ORPHA:109
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Thyroiditis, Primary hypothyroidism, Delayed puberty, Type I... ORPHA:391487
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Exocrine pancreatic insufficiency OMIM:620005
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity ORPHA:444077
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism ORPHA:1052
Gabriele-De Vries Syndrome
Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:506358
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Hyperhidrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Hyperhidrosis ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Congenital hypothyroidism OMIM:616973
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism OMIM:620186
Felty Syndrome
Weight loss ORPHA:47612
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Weight loss ORPHA:183
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Polymyositis
Weight loss ORPHA:732
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Increased circulating prolactin concentration OMIM:617675
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... ORPHA:251510
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Cachexia OMIM:175500
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss ORPHA:49041
Refractory Celiac Disease
Weight loss ORPHA:398063
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Alveolar Echinococcosis
Abnormal adrenal morphology, Weight loss ORPHA:284
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Klatskin Tumor
Weight loss ORPHA:99978
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Large for gestational age, Adrenocortical carcinoma, Pseudohypoparathy... ORPHA:116
Pyruvate Carboxylase Deficiency
Hypoglycemia, Anorexia, Abnormal temper tantrums, Compulsive behaviors, Hyperglycemia, Recurrent ... ORPHA:3008
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Pancreatitis, Thyroiditis, Weight loss ORPHA:171
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Increased circulating prolactin concentration ORPHA:502423
Cerebrotendinous Xanthomatosis
Hypothyroidism ORPHA:909
1P36 Deletion Syndrome
Hypothyroidism, Failure to thrive, Hypogonadism, Obesity ORPHA:1606
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology OMIM:300968
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Weight loss, Abnormality of the adrenal glands, Hypothyroidi... ORPHA:797
Microphthalmia, Syndromic 2
Decreased body weight, Hypothyroidism, Adrenal insufficiency OMIM:300166
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Igg4-Related Dacryoadenitis And Sialadenitis
Nodular goiter, Xerostomia, Thyroiditis, Weight loss ORPHA:79078
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Familial Thrombocytosis
Weight loss, Hyperhidrosis ORPHA:71493
Budd-Chiari Syndrome
Weight loss ORPHA:131
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Primary Myelofibrosis
Cachexia ORPHA:824
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Microphthalmia, Syndromic 6
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Anterior hypopituitarism, Abnormality... OMIM:607932
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Coffin-Siris Syndrome 12
Failure to thrive, Hypothyroidism OMIM:619325
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Depression, Recurrent hypoglycemia, Emotional lability, Hyperglycemia OMIM:124000
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Dend Syndrome
Hyperglycemia ORPHA:79134
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Down Syndrome
Hypothyroidism OMIM:190685
Rett Syndrome
Cachexia OMIM:312750
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Weight loss ORPHA:20
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Granulomatosis With Polyangiitis
Diabetes insipidus, Weight loss, Abnormality of the hypothalamus-pituitary axis, Prostatitis, Pan... ORPHA:900
Al Amyloidosis
Xerostomia, Weight loss ORPHA:85443
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Small for gestational age ORPHA:93357
Cystic Echinococcosis
Weight loss ORPHA:400
Nocardiosis
Abnormality of the adrenal glands, Thyroiditis, Weight loss ORPHA:31204
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Johanson-Blizzard Syndrome
Diabetes mellitus, Small for gestational age, Primary hypothyroidism, Failure to thrive, Hypothyr... OMIM:243800
Chromosome 1P36 Deletion Syndrome, Distal
Hypothyroidism, Obesity, Congenital hypothyroidism OMIM:607872
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Weight loss, Severe failure to thrive, Del... ORPHA:740
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Williams-Beuren Syndrome
Diabetes mellitus, Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Hypot... OMIM:194050
Polycythemia Vera
Weight loss ORPHA:729
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Abnormality of the anterior pituitary, H... ORPHA:438213
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Schinzel-Giedion Syndrome
Streak ovary, Failure to thrive in infancy, Central hypothyroidism ORPHA:798
Williams Syndrome
Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious puberty, Obesity, Type II... ORPHA:904
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Failure to thrive, Hypercapnia, Weight loss ORPHA:2020
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level OMIM:110100
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Stevens-Johnson Syndrome
Pancreatitis, Weight loss ORPHA:36426
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Toxic Epidermal Necrolysis
Pancreatitis, Weight loss ORPHA:537
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Pulmonary Alveolar Microlithiasis
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Weight loss ORPHA:60025
Rat-Bite Fever
Pancreatitis, Parotitis, Weight loss ORPHA:31205
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Truncal obesity, Delayed puberty, Hypothyroidism OMIM:259050
Oculopharyngodistal Myopathy 1
Hypercapnia, Weight loss OMIM:164310
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria OMIM:227810
Pancreatoblastoma
Weight loss ORPHA:677
Townes-Brocks Syndrome
Failure to thrive, Hypothyroidism, Delayed puberty ORPHA:857
Acrocardiofacial Syndrome
Hyperthyroidism ORPHA:2008
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Townes-Brocks Syndrome 1
Small for gestational age, Hypothyroidism OMIM:107480
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Pyomyositis
Weight loss ORPHA:764
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Weight loss ORPHA:84
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Prostatitis, Pancreatitis ORPHA:449395
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Camurati-Engelmann Disease
Slender build, Hypogonadism, Cachexia, Delayed puberty ORPHA:1328
Caroli Disease
Weight loss ORPHA:53035
Q Fever
Weight loss ORPHA:781
Castleman Disease
Weight loss ORPHA:160
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Ring Chromosome 13 Syndrome
Primary hypothyroidism ORPHA:96176
Riddle Syndrome
Weight loss ORPHA:420741
Postinfectious Vasculitis
Orchitis, Acrocyanosis, Weight loss ORPHA:48435
Viss Syndrome
Failure to thrive, Hypothyroidism OMIM:619472
Cockayne Syndrome
Anhidrosis, Diabetes mellitus, Cachexia, Absence of pubertal development, Delayed puberty ORPHA:191
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Brucellosis
Small for gestational age, Orchitis, Weight loss, Hyperhidrosis, Failure to thrive ORPHA:1304
Seckel Syndrome
Cachexia ORPHA:808
Mucolipidosis Type Ii
Weight loss ORPHA:576
Multiple Myeloma
Weight loss ORPHA:29073
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Trisomy 18
Cachexia ORPHA:3380
Genitopatellar Syndrome
Hypothyroidism OMIM:606170
Schwartz-Jampel Syndrome
Cachexia, Decreased body weight ORPHA:800
Scorpion Envenomation
Restlessness, Hyperglycemia, Glycosuria ORPHA:466677
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Dermatomyositis
Acrocyanosis, Weight loss ORPHA:221
Reactive Arthritis
Weight loss ORPHA:29207
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Behçet Disease
Orchitis, Pancreatitis, Weight loss ORPHA:117
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Delayed puberty ORPHA:2072
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Weight loss OMIM:181000
Kabuki Syndrome 1
Premature thelarche, Congenital hypothyroidism OMIM:147920
Norrie Disease
Failure to thrive, Diabetes mellitus, Cachexia, Delayed puberty ORPHA:649
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Peters Plus Syndrome
Anterior hypopituitarism, Congenital hypothyroidism ORPHA:709
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Sotos Syndrome
Hypothyroidism ORPHA:821
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Dysphagia OMIM:220111
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Proteus Syndrome
Neoplasm of the thymus, Thymus hyperplasia, Diabetes insipidus, Cachexia ORPHA:744
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Chronic Graft Versus Host Disease
Xerostomia, Weight loss ORPHA:99921
Goodpasture Syndrome
Cyanosis, Weight loss OMIM:233450
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Choreoacanthocytosis
Weight loss ORPHA:2388
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trhr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trhr.

No publications found that use IMPC mice or data for Trhr.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Trhrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter