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Gene: Slc30a10 MGI:2685058

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 30, member 10
Synonyms:
E130106K10Rik

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 Slc30a10 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 Slc30a10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased total ... ORPHA:309854

The table below shows human diseases predicted to be associated to Slc30a10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal, 3
Decreased circulating selenium concentration, Increased circulating free T3, Abnormal thyroid-sti... OMIM:620198
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating thyroglobulin concentration, Goiter, Increas... OMIM:188570
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,... OMIM:613239
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Abnormal circulating thyroglobulin concentration, Pi... ORPHA:99832
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test, Pituitary dwarfism, Growth... OMIM:262710
Pendred Syndrome
Increased circulating thyroglobulin concentration, Goiter, Thyroid carcinoma, Compensated hypothy... OMIM:274600
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss, Hyperthyroidism, Hypokalemia OMIM:188580
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Hypogonadism... ORPHA:3363
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating thyroglobuli... ORPHA:95716
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism, Short ... OMIM:300123
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Glucose intolerance, Severe postn... ORPHA:411590
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Jaundice, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentratio... OMIM:613038
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr... OMIM:614736
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Thyroiditis, Sialadenitis, Thyrotoxicosis... ORPHA:64744
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Small for gestational age, Hypoinsulinem... ORPHA:99886
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Portal hypertension, Hypot... ORPHA:79319
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter, Growth delay OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter, Growth delay OMIM:274800
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Hyper... OMIM:275000
Cog2-Cdg
Decreased liver function, Small pituitary gland, Decreased circulating ceruloplasmin concentratio... ORPHA:435934
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Elevated circulating hepatic transaminase concentration, Decreased circula... OMIM:617395
Hawkinsinuria
Hypothyroidism, Failure to thrive, Abnormal circulating tyrosine concentration ORPHA:2118
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hyponatremia, Goiter, Hashimoto thyroiditis ORPHA:83601
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, Sh... OMIM:619013
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating thyroglobul... ORPHA:226316
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Abnormal circulating thyroglobulin concentration, In... ORPHA:90674
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Pheochromocytoma, Primary hyperparathyroidism, Elevated cir... ORPHA:1332
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Type II diabete... OMIM:620121
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating copper concentration, Abnorm... OMIM:615517
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Mildly elevated creatine kinase, Hypothyroidism ORPHA:663
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Decreased body weight, Hypothyroidism, Sho... OMIM:618347
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma, Hypothyroidism, Growth delay, Hypomagnesemia, Cryptorchidism OMIM:619908
Bangstad Syndrome
Severe short stature, Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-r... OMIM:210740
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Decreased transferrin saturation, Abnorm... ORPHA:300298
Gne Myopathy
Mildly elevated creatine kinase, Hypothyroidism ORPHA:602
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95512
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Panhypophysitis
Central diabetes insipidus, Abnormal thalamic MRI signal intensity, Reduced circulating prolactin... ORPHA:95513
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:613313
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperbilirubinem... ORPHA:1667
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Chronic hepat... ORPHA:465508
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, P... OMIM:231100
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... OMIM:616784
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Cystinosis
Delayed puberty, Hypokalemia, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism... ORPHA:213
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Congen... ORPHA:226313
Foxp1 Syndrome
Hypothyroidism, Failure to thrive, Diabetes mellitus, Decreased circulating iron concentration, O... ORPHA:391372
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Abnormal circulat... ORPHA:95715
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Hypothyroidism, Failure to thrive, Decreased... OMIM:608104
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Gracile Syndrome
Increased serum pyruvate, Cholestasis, Increased circulating iron concentration, Intrauterine gro... OMIM:603358
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... ORPHA:231222
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Increased serum testosterone level, Cholestasis, Abnormal t... ORPHA:562
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Elev... OMIM:606069
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
B4Galt1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79332
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma ORPHA:319487
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Short s... OMIM:103580
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypothyroidism, Short stature, Hypercalcemia, Splenomegaly, Cryptorch... OMIM:618440
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Precocious Puberty, Central, 1
Isosexual precocious puberty, Hypothyroidism, Short stature, Elevated circulating follicle stimul... OMIM:176400
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hypoparathyroidism, Hepato... ORPHA:231226
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t... ORPHA:77296
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Reduced circulating prolactin concentration, Pitui... ORPHA:91355
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Elevated circula... ORPHA:525731
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:69665
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hypothyroidism, Failure to thrive, Short stature, Hepatosplenome... OMIM:618999
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Jaundice, Short stature ORPHA:2349
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Growth delay OMIM:274400
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Glutaric Aciduria Iii
Goiter, Failure to thrive, Hyperthyroidism OMIM:231690
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Familial Glucocorticoid Deficiency
Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Decreased circulating dehydroepiandros... ORPHA:361
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroid... OMIM:301035
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim... ORPHA:424
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Short statur... ORPHA:163634
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Papillary thyroid carcinoma ORPHA:97290
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Severe postnatal growth retardation,... OMIM:275100
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypoparathyr... ORPHA:231214
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased te... OMIM:616113
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Increased circu... OMIM:218700
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Failure to thrive, Congenital hypothyroidism ORPHA:96183
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Inappropriat... ORPHA:226307
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... OMIM:242150
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Growth delay, Impaired s... OMIM:614450
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypocalcemia, Hypothyroidism, Short stature, Hypohidrosis ORPHA:1563
Athyreosis
Hypothyroidism, Thyroid agenesis, Short stature, Growth delay ORPHA:95713
Secondary Short Bowel Syndrome
Primary hypothyroidism, Cholestasis, Central hypothyroidism, Failure to thrive, Growth delay, Wei... ORPHA:95427
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Functioning Gonadotropic Adenoma
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:91348
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Hypothyroidism, Short stature, Hepatosplen... OMIM:619750
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Weight loss ORPHA:142
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim... ORPHA:99819
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Short stature OMIM:618625
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Short stature, Hypocholesterolemia, Small for gestational age OMIM:610883
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Growth delay, Hypoalbuminemia, Small for gestati... OMIM:256300
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Hemochromatosis, Type 3
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased circulating iron co... OMIM:604250
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis OMIM:615542
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Short stature, Primary gonadal insu... ORPHA:1227
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Isolated Atp Synthase Deficiency
Hepatomegaly, Hyperalaninemia, Hypothyroidism, Hyperammonemia, Short stature, Hypogonadism ORPHA:254913
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration, Increased blood urea nitrogen... OMIM:223360
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Blepharochalasis And Double Lip
Goiter OMIM:109900
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter OMIM:180295
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Short stature, F... ORPHA:300536
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase c... ORPHA:75563
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:301077
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Dysbetalipoproteinemia
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... ORPHA:412
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Thyroid Hypoplasia
Jaundice, Thyroid hypoplasia, Hypothyroidism, Short stature, Growth delay ORPHA:95720
Timothy Syndrome
Hypocalcemia, Hypoglycemia, Hypothyroidism OMIM:601005
Vipoma
Neoplasm of the pancreas, Pituitary adenoma, Parathyroid adenoma, Neoplasm of the liver, Increase... ORPHA:97282
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Hepatomegaly, Decreased body weight, Short stature OMIM:607906
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Decreased circulating ceruloplasmin concentration, Abnorm... ORPHA:48818
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Congenital hy... ORPHA:209905
Potocki-Shaffer Syndrome
Delayed puberty, Hypothyroidism ORPHA:52022
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate... ORPHA:79444
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Jaundice, Hypothyroidism, Short s... ORPHA:95712
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis, Hypogonad... ORPHA:848
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:203800
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration OMIM:121270
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Hypothyroidism, Failure to thrive, Growth delay, Small... OMIM:619147
Whipple Disease
Hepatomegaly, Cachexia, Hypothyroidism, Hyponatremia, Splenomegaly, Insulin resistance ORPHA:3452
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Growth delay, Elevated hepatic iron concentration, Splenomegaly, Hypogonadism, Elev... OMIM:615234
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypothyroidism, Short stature, Growth delay, Recurrent hypoglycemia, Intrauterin... OMIM:616817
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Hypothyroidism, Growth delay, Hypoalbuminemia OMIM:226300
Familial Benign Copper Deficiency
Short stature, Decreased circulating copper concentration ORPHA:1551
Somatostatinoma
Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Increa... ORPHA:97283
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Cryptorchidism... OMIM:617575
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Decreased testicular size, Elevated circulating follicle... OMIM:612885
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Hypokalemia, Fa... ORPHA:769
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... OMIM:617713
Dystonia 28
Hypothyroidism, Precocious puberty, Short stature ORPHA:589618
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Li-Campeau Syndrome
Hypothyroidism, Cryptorchidism, Short stature OMIM:619189
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypophosphatemia, Pancreat... ORPHA:699
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hypothyroidism, Precocious puberty, Obesity, Intrauterine growth retardation, Cry... ORPHA:254346
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler... OMIM:235200
T-Cell Immunodeficiency With Thymic Aplasia
Thyroiditis, Hypothyroidism, Failure to thrive, Atypical or prolonged hepatitis, Hypocalcemic tet... ORPHA:83471
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test, Elevated circulating hepat... ORPHA:324737
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature OMIM:619851
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Hyp... ORPHA:37042
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Short stature, Hypohidrosis ORPHA:1882
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Thyroiditis, Portal hypertension, Hypothyroidism, Hepatosplenomegaly, Acu... ORPHA:228426
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Hypothyroidism, Failure to thrive, Hyperhidrosis ORPHA:349
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he... ORPHA:66634
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Omenn Syndrome
Hepatomegaly, Thyroiditis, Hypothyroidism, Failure to thrive, Splenomegaly ORPHA:39041
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Severe postnatal growth retardation, Decreased body weight, Proportionate short ... ORPHA:391408
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Chromosome 1P35 Deletion Syndrome
Intrauterine growth retardation, Cryptorchidism, Short stature, Congenital hypothyroidism OMIM:617930
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hyp... OMIM:613673
Grfoma
Neoplasm of the pancreas, Pheochromocytoma, Pituitary adenoma, Parathyroid adenoma, Increased cir... ORPHA:97261
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Hypothyroidism, Short stature ORPHA:2994
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Elevated circulatin... ORPHA:254892
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Short stature, Splenome... OMIM:613385
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Small for gestational age, Hypoplasia o... ORPHA:84064
Aa Amyloidosis
Hypothyroidism, Hepatomegaly, Cholestasis, Adrenal insufficiency ORPHA:85445
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi... OMIM:618183
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Bilateral cr... ORPHA:96179
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate... ORPHA:79443
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre... OMIM:610199
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Short stature, Hypogonadism, Intrauterine growth retardation, Abdomina... OMIM:300869
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615109
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Female hypogonadism, Asplenia, Hypo... OMIM:240300
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Immunodeficiency 102
Hypothyroidism, Nodular regenerative hyperplasia of liver, Hepatomegaly OMIM:301082
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent... OMIM:614602
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Hepatomegaly, Hypothyroidism, Highly elevated... OMIM:251900
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity, Intrauterine growth retardation, Cryptorch... OMIM:614613
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology, Decreased body mass index, Short stature, Prolonged neonatal j... ORPHA:59
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH concentration, Hyperuricemia, Hypoglycemia, Adreno... ORPHA:199299
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Short stature ORPHA:2491
Poems Syndrome
Hepatomegaly, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency,... ORPHA:2905
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Glycosuria, Failure to thr... ORPHA:411634
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Precocious puberty, Hypothyroidism, Short stature, Obesity... ORPHA:819
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Hypothyroidism, Intrauterine growth retardation, Hypoglycemia, Cryp... ORPHA:397590
Aceruloplasminemia
Aceruloplasminemia, Diabetes mellitus, Increased circulating ferritin concentration, Decreased ci... OMIM:604290
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Hypothyroidism, Short stature, Exocrine pancreatic insufficiency, Hepatosplenome... OMIM:615952
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Hepatomegaly, Hypothyroidism, Short stature, Diabe... OMIM:616263
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Failure to thrive, Type I diabetes mellitus, Hepatitis OMIM:304790
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Ovarian carc... OMIM:158350
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal insufficiency, Exocrine p... OMIM:269200
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Neonatal hyperbilirubinemia, Short stature ORPHA:293939
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Disproportionate short-limb short stature, Cryptorchidi... OMIM:616541
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Thyroid hypoplasia, Hypothyroidism, Failure to thrive, Growth delay, Severe sho... ORPHA:3047
Lig4 Syndrome
Hepatomegaly, Hypothyroidism, Growth delay, Type II diabetes mellitus, Cryptorchidism ORPHA:99812
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Short stature OMIM:600430
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hyper... OMIM:212065
Lig4 Syndrome
Hypothyroidism, Failure to thrive, Type II diabetes mellitus, Cryptorchidism, Small for gestation... OMIM:606593
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Increased circulating prolactin concentration, Adrenocortical aden... OMIM:131100
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Hypohidrosis, Failure to t... ORPHA:363528
4H Leukodystrophy
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph... ORPHA:289494
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Delayed menarche, Hypothyroidism, Type II diabetes mellitus, Hypogonadism, Type I d... ORPHA:412057
Glucagonoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulating gonadotro... ORPHA:97280
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis, Diabetes mellitus ORPHA:3198
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Panhypopituitarism, Hy... OMIM:146510
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:163971
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Elevated circulating hepatic transaminase concentration, Elevated circulating... OMIM:616878
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, ... ORPHA:79259
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:277900
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased HDL c... ORPHA:14
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pituitary adenoma, H... ORPHA:913
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diabetes insipidus, Hypoth... OMIM:225750
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Decreased cirrculating antimullerian hormone circu... OMIM:619146
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Overweight, Small for gestational age OMIM:617796
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Thyroid C cell hyperplasia, Pri... ORPHA:653
Leprechaunism
Postnatal growth retardation, Hyperinsulinemia, Hepatomegaly, Hypokalemia, Fasting hypoglycemia, ... ORPHA:508
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Decreased body weight, Hypothyroidism, Sho... OMIM:609053
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Failure to thrive in infancy OMIM:618829
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Failur... OMIM:618922
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Hypothyroidism, Hepatosplenomegaly, Failure to thrive in infancy, Type I diabetes me... OMIM:606367
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased circulating iron concentr... ORPHA:766
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr... ORPHA:93111
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, G... ORPHA:445038
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased circulating iron concentration OMIM:206100
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:752
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Cystinosis, Nephropathic
Delayed puberty, Primary hypothyroidism, Hypophosphatemia, Splenomegaly, Reduced blood urea nitro... OMIM:219800
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituitary hypothyroidi... OMIM:615926
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Wolfram Syndrome 1
Diabetes insipidus, Hypothyroidism, Growth delay, Diabetes mellitus, Testicular atrophy OMIM:222300
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Methimazole Embryofetopathy
Hypothyroidism, Intrauterine growth retardation, Abnormality of the thyroid gland ORPHA:1923
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia, Short stature ORPHA:2479
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Hypokalemia, Growth delay, Glycosuria, Failure to thrive, Hypo... ORPHA:411629
Adiposis Dolorosa
Hypothyroidism, Obesity, Xerostomia ORPHA:36397
Monosomy 18P
Hypothyroidism, Short stature ORPHA:1598
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Immunodeficiency, Common Variable, 8, With Autoimmunity
Thyroiditis, Hypothyroidism, Failure to thrive, Growth delay, Splenomegaly, Type I diabetes mellitus OMIM:614700
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Hyperthyroidism, Familial Gestational
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Immunodeficiency 31C
Delayed puberty, Hepatomegaly, Hypothyroidism, Short stature, Growth delay, Splenomegaly, Weight ... OMIM:614162
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Increased serum bile acid concentration, Cholelithiasis, ... OMIM:618268
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398079
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Delayed puberty, Decreased response to growth hormone stimulation test, Hypothyroidism, Short sta... OMIM:619234
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Rhizomelia, Severe intrauterine growth ret... OMIM:614114
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Abnormality of the testis size, Decreased testicular si... ORPHA:261534
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Elevated circulating hepatic transaminase concentration, Elevated circulat... ORPHA:480864
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Failure to thrive, Short stature, Intrauterine growth retardation, Hypoglycemia OMIM:618005
Jung Syndrome
Hypothyroidism ORPHA:2321
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Hypothyroidism, Type I diabetes mellitus OMIM:620430
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Decreased circulating cortisol level, ... ORPHA:289548
Ovarian Dysgenesis 1
Increased circulating gonadotropin level OMIM:233300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Delayed puberty, Neonatal hypoglycemia, Absence of secondary sex characteristics, A... ORPHA:168558
Seckel Syndrome 7
Central hypothyroidism, Severe short stature, Intrauterine growth retardation OMIM:614851
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nodular regenerative hyperplasia of liver, Elevated circulating creatinine concentration, Compens... ORPHA:247691
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Microform Holoprosencephaly
Maternal diabetes, Panhypopituitarism, Hypothyroidism, Short stature, Intrauterine growth retarda... ORPHA:280200
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Ovarian Dysgenesis 7
Delayed puberty, Decreased serum estradiol, Elevated circulating follicle stimulating hormone lev... OMIM:618117
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Increased circulating gonadotropin level ORPHA:399805
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Transient hyperphenylalaninemia ORPHA:98808
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Hypothyroidism, Short stature, Disproporti... ORPHA:1855
Cowden Syndrome 7
Ductal carcinoma in situ, Goiter, Papillary thyroid carcinoma, Hashimoto thyroiditis OMIM:616858
Ring Chromosome 12 Syndrome
Breast hypoplasia, Hypothyroidism, Growth delay, Cryptorchidism, Small for gestational age ORPHA:1439
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Hyperlipidemia, Short stature, Failure to thrive... ORPHA:1830
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism, Cryptorchidism, Short stature ORPHA:85321
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatitis, Hypothyroidism, Splenomegaly, Weight loss, Intrauterine growth retardati... OMIM:615846
Nelson Syndrome
Hypokalemia, Diabetes insipidus, Secondary hypercortisolism, Anterior hypopituitarism, Adrenocort... ORPHA:199244
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Small for gestational age, Hy... OMIM:222470
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Polycystic ovaries, Premature thelarche ORPHA:371428
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Perrault Syndrome 1
Short stature, Increased circulating gonadotropin level OMIM:233400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Diabetes mellitus, Hyperthyroidism ORPHA:449291
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Mogs-Cdg
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyroidism, Hepatosplenomegaly, H... ORPHA:79330
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Monosomy 18Q
Bilateral cryptorchidism, Hypothyroidism, Failure to thrive, Secondary growth hormone deficiency,... ORPHA:1600
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, H... ORPHA:98870
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Melas
Hypoparathyroidism, Hypothyroidism, Failure to thrive, Short stature, Type II diabetes mellitus, ... ORPHA:550
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Increased body weight, Central hypothyroidism, Absence... ORPHA:398069
Johanson-Blizzard Syndrome
Primary hypothyroidism, Severe intrauterine growth retardation, Splenomegaly, Intrauterine growth... OMIM:243800
Rothmund-Thomson Syndrome Type 1
Calcinosis, Hypothyroidism, Short stature, Growth delay, Hypogonadism, Cryptorchidism, Small for ... ORPHA:221008
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased total ... ORPHA:309854
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level... OMIM:619834
Neuhauser Syndrome
Primary hypothyroidism, Hypercholesterolemia, Short stature OMIM:249310
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Enlarged polycystic ovaries, Short stature, Fail... ORPHA:201
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Accessory spleen, Severe postnatal growt... OMIM:620005
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Short stature, Growth delay, Hyperthyroidism,... OMIM:617675
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Unconjugated hyperbilirubinemia, Congenit... OMIM:620186
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Digeorge Syndrome
Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Hypothyroidism, Short stature, Obesity, P... OMIM:188400
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom... ORPHA:797
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat... OMIM:273250
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Thyroiditis, Abnormality of the sub... ORPHA:79078
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Short stature, Growth delay, Hyperthyroidism, Mildly elevated creatine kinase, Increased circulat... ORPHA:502423
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Cryptorchidism, Supernumerary nipple, Hypohidrosis ORPHA:1812
Koolen-De Vries Syndrome
Hypothyroidism, Cryptorchidism, Short stature ORPHA:96169
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Neurooculorenal Syndrome
Postnatal growth retardation, Decreased circulating ACTH concentration, Central hypothyroidism, D... OMIM:620305
Premature Ovarian Failure 8
Ovarian neoplasm, Elevated circulating follicle stimulating hormone level, Elevated circulating l... OMIM:615723
Alexander Disease
Hypothyroidism, Precocious puberty, Failure to thrive, Hyperhidrosis, Diabetes mellitus ORPHA:58
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Decreased circulating carnitine concentration, Decreased body weight, Growth del... ORPHA:89842
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, E... ORPHA:110
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Pallister-Hall Syndrome
Hypothalamic hamartoma, Large for gestational age, Pituitary hypothyroidism, Adrenal hypoplasia, ... ORPHA:672
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimu... ORPHA:3044
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Stüve-Wiedemann Syndrome
Hypothyroidism, Hypohidrosis, Short stature, Hyperhidrosis, Intrauterine growth retardation, Ecto... ORPHA:3206
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Thyroid hypoplasia, Short stature, Mild intrauterine growth retardation, Elev... OMIM:308050
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Beckwith-Wiedemann Syndrome
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Adr... ORPHA:116
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Hypothyroidism, Failu... ORPHA:567
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Increased circulating gonadotropin level ORPHA:399808
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Familial Multinodular Goiter
Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter, Sertoli cell neoplasm ORPHA:276399
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Bilateral cryptorchidism, Central hypothyroidism, Decreased testicular size, Short stature, Growt... OMIM:300998
Lymphatic Malformation 6
Hypothyroidism, Splenomegaly, Short stature, Hydrocele testis OMIM:616843
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Martin-Probst Syndrome
Hypothyroidism, Hypoplastic nipples, Short stature, Cryptorchidism OMIM:300519
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Failure to thrive, Cryptorchidism, Intrauterine growth retardation ORPHA:453499
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Elevated circu... OMIM:619203
46,Xx Gonadal Dysgenesis
Delayed puberty, Short stature, Decreased serum estradiol, Increased circulating gonadotropin lev... ORPHA:243
Perrault Syndrome 4
Hypoplasia of the ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Obe... OMIM:615300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Decreased serum estradiol, Increased circulating gonadotropin level, Streak ov... ORPHA:168563
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Biliary atresia, Pancr... ORPHA:2255
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Increased circulating gonadotropin level, Bilateral cryptorchidism, Unilateral c... ORPHA:1772
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Cryptorchidism OMIM:603736
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Hallermann-Streiff Syndrome
Hypothyroidism, Cryptorchidism, Abdominal situs inversus, Proportionate short stature ORPHA:2108
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Failure to thrive, Postnatal growth retardation OMIM:300912
African Trypanosomiasis
Abnormality of renin-angiotensin system, Jaundice, Hepatomegaly, Abnormality of the endocrine sys... ORPHA:3385
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Thyroiditis, Short ... ORPHA:391487
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Hypothyroidism, Precocious puberty, Short stature, Decreased... ORPHA:438213
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Breast aplasia, Abnormality of the endocri... ORPHA:268261
Wrinkly Skin Syndrome
Postnatal growth retardation, Short stature, Failure to thrive, High nonceruloplasmin-bound serum... ORPHA:2834
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Short stature OMIM:607944
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Testicular n... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Testicular n... ORPHA:363958
1P36 Deletion Syndrome
Annular pancreas, Hypothyroidism, Failure to thrive, Obesity, Short stature, Abnormality of the s... ORPHA:1606
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypothyroidism, Prolonged neonatal jaund... ORPHA:51
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased circulating gonado... ORPHA:755
Andersen Cardiodysrhythmic Periodic Paralysis
Short stature, Hyperthyroidism, Hypokalemia OMIM:170390
Occipital Horn Syndrome
Growth delay, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... OMIM:304150
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... ORPHA:347
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Short stature, Obesity, Hy... ORPHA:444077
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Intrauterine growth retardation, Short stature, Growth delay ORPHA:1052
Diaphanospondylodysostosis
Intrauterine growth retardation, Abnormal liver lobulation, Disproportionate short-trunk short st... OMIM:608022
Cerebrotendinous Xanthomatosis
Hypothyroidism, Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Thyroid hypoplasia, Hypoplasia of the thymus, Failure to thriv... ORPHA:861
Tuberous Sclerosis 1
Hypothyroidism, Adenoma sebaceum, Precocious puberty OMIM:191100
Williams-Beuren Syndrome
Glucose intolerance, Portal hypertension, Hypothyroidism, Short stature, Early onset of sexual ma... OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Hypocalcemia, Chole... OMIM:619503
Gabriele-De Vries Syndrome
Breast hypoplasia, Decreased response to growth hormone stimulation test, Hypothyroidism, Intraut... ORPHA:506358
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Charge Syndrome
Delayed puberty, Postnatal growth retardation, Decreased response to growth hormone stimulation t... OMIM:214800
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Elevated ci... ORPHA:273
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism, Intrauterine growth retardation ORPHA:1556
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93924
Alkaptonuria
Black pigment gallstones, Prostatitis, Hypothyroidism ORPHA:56
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Growth delay, Hyperhidrosis, Cryptorchidism, Supernumerary nipple ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Growth delay, Hyperhidrosis, Cryptorchidism, Supernumerary nipple ORPHA:352665
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Dilated third ventricle, Decreased body weight, Short stature, Hepati... OMIM:620371
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Adrenal hypoplasia, Thyroid hypoplasia, Abnormality of the hypothalamus-pituitary... ORPHA:2166
47,Xyy Syndrome
Increased circulating gonadotropin level, Cryptorchidism, Increased serum testosterone level, Mac... ORPHA:8
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Mosaic Trisomy 9
Intrauterine growth retardation, Cryptorchidism, Abnormal liver lobulation, Asplenia ORPHA:99776
Williams Syndrome
Abnormal circulating lipid concentration, Cholelithiasis, Elevated circulating creatine kinase co... ORPHA:904
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Tuberous Sclerosis 2
Hypothyroidism, Adenoma sebaceum, Precocious puberty OMIM:613254
Coffin-Siris Syndrome 12
Elevated circulating hepatic transaminase concentration, Hypothyroidism, Failure to thrive, Short... OMIM:619325
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Abnormality of thyroid physiology, Unilateral breast hypoplasia OMIM:300968
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Intellectual Developmental Disorder, Autosomal Dominant 42
Growth delay, Failure to thrive, Congenital hypothyroidism OMIM:616973
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased c... ORPHA:251510
Primrose Syndrome
Delayed puberty, Glucose intolerance, Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, H... OMIM:259050
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99228
Monosomy X
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99226
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism OMIM:271510
Microphthalmia, Syndromic 2
Decreased body weight, Hypothyroidism, Short stature, Cryptorchidism, Adrenal insufficiency OMIM:300166
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Hyp... OMIM:607932
Down Syndrome
Hypothyroidism, Short stature OMIM:190685
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Ring Chromosome 13 Syndrome
Primary hypothyroidism, Hypoplasia of the gallbladder, Growth delay ORPHA:96176
Sponastrime Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Hypothyroidism, Precocious puberty, Intrau... ORPHA:93357
Schinzel-Giedion Syndrome
Annular pancreas, Central hypothyroidism, Hepatoblastoma, Failure to thrive in infancy, Streak ovary ORPHA:798
Sotos Syndrome
Neonatal hypoglycemia, Hypothyroidism, Prolonged neonatal jaundice, Hypercalcemia, Cryptorchidism... ORPHA:821
Down Syndrome
Delayed puberty, Short stature, Obesity, Hyperthyroidism, Type II diabetes mellitus ORPHA:870
Chromosome 1P36 Deletion Syndrome, Distal
Congenital hypothyroidism, Hypothyroidism, Growth delay, Obesity, Cryptorchidism OMIM:607872
Acrocardiofacial Syndrome
Intrauterine growth retardation, Cryptorchidism, Hyperthyroidism ORPHA:2008
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Increased serum test... ORPHA:3455
Peters Plus Syndrome
Postnatal growth retardation, Rhizomelia, Disproportionate short-limb short stature, Anterior hyp... ORPHA:709
Townes-Brocks Syndrome
Delayed puberty, Hypothyroidism, Failure to thrive, Short stature, Cryptorchidism ORPHA:857
Kabuki Syndrome 1
Postnatal growth retardation, Congenital hypothyroidism, Short stature, Growth delay, Premature t... OMIM:147920
Townes-Brocks Syndrome 1
Hypothyroidism, Cryptorchidism, Small for gestational age OMIM:107480
Viss Syndrome
Hypothyroidism, Failure to thrive, Short stature OMIM:619472
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level OMIM:110100
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Absent testis, Decreased serum testos... ORPHA:325124
Genitopatellar Syndrome
Hypothyroidism, Cryptorchidism OMIM:606170
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500

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 Slc30a10

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 Slc30a10.

No publications found that use IMPC mice or data for Slc30a10.

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
Slc30a10tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc30a10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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