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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
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... 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
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Decre... OMIM:620198
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... OMIM:609698
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... OMIM:188570
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Goiter, Overweight, Elevated circulating thyroid-sti... ORPHA:99832
Pituitary Dwarfism With Large Sella Turcica
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... OMIM:262710
Pendred Syndrome
Compensated hypothyroidism, Increased circulating thyroglobulin level, Thyroid carcinoma, Goiter OMIM:274600
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... ORPHA:95716
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... OMIM:300123
Wolfram-Like Syndrome
Diabetes mellitus, Glucose intolerance, Severe postnatal growth retardation, Primary gonadal insu... ORPHA:411590
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Congenital Atransferrinemia
Abnormality of the pancreas, Hypothyroidism ORPHA:1195
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... OMIM:609152
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Hawkinsinuria
Abnormal circulating tyrosine concentration, Failure to thrive, Hypothyroidism ORPHA:2118
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Thyroid Dyshormonogenesis 5
Growth delay, Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Growth delay, Hypothyroidism, Goiter OMIM:274800
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... ORPHA:90673
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... ORPHA:435934
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... ORPHA:79230
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Abnormal liver parenchyma morphology, Ph... ORPHA:1332
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... ORPHA:300298
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Short stature, Hepatosple... OMIM:619013
Galloway-Mowat Syndrome 6
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Hypoalbuminem... OMIM:618347
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Decreased cir... ORPHA:90674
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Bangstad Syndrome
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gon... OMIM:210740
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Growth delay, Hypothalamic hamartoma, Hypomagnesemia, Hypothyroidism OMIM:619908
Gne Myopathy
Hypothyroidism, Mildly elevated creatine kinase ORPHA:602
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... OMIM:612462
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism, Short stature OMIM:275120
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Short stature, Central... OMIM:616784
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Cystinosis
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia... ORPHA:213
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Increased se... OMIM:603358
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Decreased serum iron, Overweight, Failure to thrive, Hypothyroidism ORPHA:391372
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... ORPHA:30391
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Hypoalb... OMIM:608104
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, ... ORPHA:562
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:79332
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Pseudohypoparathyroidism, Type Ia
Short stature, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathy... OMIM:103580
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... ORPHA:91355
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... ORPHA:231226
Thyroid Dyshormonogenesis 1
Growth delay, Hypothyroidism, Goiter OMIM:274400
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyroto... ORPHA:525731
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Jaundice, Hypothyroidism, Short stature ORPHA:2349
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, Failure to thrive, Hypothyroi... OMIM:618999
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Short stature, Cryptorchidism, Splenomega... OMIM:618440
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... ORPHA:163634
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... OMIM:301035
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... ORPHA:69665
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidi... OMIM:275100
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... ORPHA:231214
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase ORPHA:663
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Failure to thrive, Congenital hypothyroidism ORPHA:96183
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... OMIM:616113
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Short stature, Hypohidrosis, Hypocalcemia, Hypothyroidism ORPHA:1563
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Athyreosis
Thyroid agenesis, Growth delay, Hypothyroidism, Short stature ORPHA:95713
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei... ORPHA:95427
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Elevate... OMIM:619750
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism, Short stature OMIM:618625
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Potocki-Lupski Syndrome
Small for gestational age, Short stature, Hypocholesterolemia, Failure to thrive, Hypothyroidism OMIM:610883
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Growth delay, Hypoalbuminemia, Hypopro... OMIM:256300
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Orthostatic Hypotension 1
Hypomagnesemia, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Increased blo... OMIM:223360
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Isolated Atp Synthase Deficiency
Hepatomegaly, Short stature, Hyperammonemia, Hypogonadism, Hyperalaninemia, Hypothyroidism ORPHA:254913
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Di... ORPHA:48818
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Blepharochalasis And Double Lip
Goiter OMIM:109900
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Testicular dysgenesis, Abnormality of thyroid physiology OMIM:615542
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Short stature, Adrenal hypoplasia, ... ORPHA:95496
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Diabetes melli... ORPHA:412
Thyroid Hypoplasia
Short stature, Jaundice, Growth delay, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Hypothyroidism, Short stature, Decreased body weight OMIM:607906
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Hypoglycemia OMIM:601005
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Short stature, A... ORPHA:209905
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... ORPHA:97282
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration OMIM:121270
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Small for gestational age, Growth delay, Hyperalaninemia, Failure to th... OMIM:619147
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... ORPHA:848
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... ORPHA:97283
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Ectopic thyroid, Hypothy... ORPHA:95712
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Whipple Disease
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Short stature ORPHA:1551
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Recurrent hypoglycemia, D... OMIM:616817
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Short stature, Precocious ... ORPHA:769
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Adrenal insufficiency, Hypoalbuminemia, Hypog... OMIM:617575
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, In... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Dystonia 28
Precocious puberty, Hypothyroidism, Short stature ORPHA:589618
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypothyroidism, Growth delay, Hypoalbuminemia, Hypoproteinemia OMIM:226300
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... ORPHA:699
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Portal hypert... OMIM:619487
Li-Campeau Syndrome
Cryptorchidism, Hypothyroidism, Short stature OMIM:619189
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Atypical or prolonged hepatitis, Thyroiditis, Hypocalcemic tetany, Failure... ORPHA:83471
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Hypothyroidism OMIM:619851
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pan... ORPHA:456312
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Short stature, Hypohidrosis ORPHA:1882
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Intrauterine grow... ORPHA:254346
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Growth... ORPHA:66634
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconjugated hyperbil... OMIM:613673
Omenn Syndrome
Hepatomegaly, Splenomegaly, Thyroiditis, Failure to thrive, Hypothyroidism ORPHA:39041
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Hypoglycemia, Proportionate short stature, Severe p... ORPHA:391408
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Short stature, Delayed puberty ORPHA:2994
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine ... ORPHA:254892
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormali... ORPHA:37042
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Hyperhidrosis, Failure to thrive, Hypothyroidism ORPHA:349
Srd5A3-Cdg
Elevated hepatic transaminase, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Abnormality of the liver, H... ORPHA:84064
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Short stature... OMIM:616185
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Elev... OMIM:101800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Postnatal growth... ORPHA:96179
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Aa Amyloidosis
Hepatomegaly, Hypothyroidism, Cholestasis, Adrenal insufficiency ORPHA:85445
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Short stature, Portal hypertension, Hypersplenism, Sp... OMIM:613385
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ... OMIM:240300
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intr... OMIM:614602
Immunodeficiency 102
Hepatomegaly, Hypothyroidism, Nodular regenerative hyperplasia of liver OMIM:301082
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin conc... OMIM:277900
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Abnormal circulating creatine kinase concentration, Hypothyroidism ORPHA:263297
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Hepatosplenomegaly, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exo... OMIM:615952
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Highly elevated creatine kinase, Hypothyroidism, Elevated circulating creatine kinase concentrati... OMIM:251900
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Short stature ORPHA:2491
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Glycosur... ORPHA:411634
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Allan-Herndon-Dudley Syndrome
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Short... ORPHA:59
Aceruloplasminemia
Increased circulating ferritin concentration, Diabetes mellitus, Aceruloplasminemia, Decreased se... OMIM:604290
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Precocious puberty, Obesity, D... ORPHA:819
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... ORPHA:2410
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Cryptorchidism, Obesity, Congenital hypothyroidism, Mild short stature, Intrau... OMIM:614613
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Hepatitis OMIM:304790
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypoglycemia, Postnatal growth retardation, Cryptorchidism, Intrauteri... ORPHA:397590
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal... OMIM:616263
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... OMIM:131100
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Neonatal hyperbilirubinemia, Short stature ORPHA:293939
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Cryptorchidism, Insulin resistance, Truncal obesity, Disproport... OMIM:616541
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... ORPHA:3047
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Short stature OMIM:600430
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, H... OMIM:212065
Lig4 Syndrome
Hepatomegaly, Cryptorchidism, Growth delay, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... ORPHA:97280
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... ORPHA:412057
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Decreased response to growth hormone... ORPHA:363528
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... OMIM:616878
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Lig4 Syndrome
Small for gestational age, Cryptorchidism, Type II diabetes mellitus, Failure to thrive, Hypothyr... OMIM:606593
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Short stature, Splenomegaly, Pro... OMIM:225750
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Short stature, Hepatocellula... ORPHA:79259
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163971
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hepati... ORPHA:14
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyro... ORPHA:653
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Leprechaunism
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Hyperinsulinemi... ORPHA:508
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Hypothyroidism OMIM:617796
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Decreased body weight, Intr... OMIM:609053
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Failure to thrive in infancy OMIM:618829
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... ORPHA:93111
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenom... ORPHA:733
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein concentration, Bilateral crypto... ORPHA:457083
Chromosome 1P35 Deletion Syndrome
Short stature, Elevated maternal serum alpha-fetoprotein, Cryptorchidism, Congenital hypothyroidi... OMIM:617930
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... ORPHA:766
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Thyroiditis, Hepatosplenomegaly, Type I diabetes mellitus, Hypothyr... OMIM:606367
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Growth delay, Hepatic steatosis, Neonatal hypoglyc... ORPHA:445038
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Failure to ... OMIM:618922
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
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, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy OMIM:222300
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism, Short stature ORPHA:2479
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypothyroidism ORPHA:1923
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Growth delay, Glycosuria, Hy... ORPHA:411629
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Adiposis Dolorosa
Xerostomia, Hypothyroidism, Obesity ORPHA:36397
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Monosomy 18P
Hypothyroidism, Short stature ORPHA:1598
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Short stature, Decreased response to growth hormone ... ORPHA:293987
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Diabetes mellitus, Hypothyroidism ORPHA:98673
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Short stature, Splen... OMIM:219800
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ele... OMIM:618187
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... ORPHA:2905
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Increased serum bile aci... OMIM:618268
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Thyroiditis, Growth delay, Type I diabetes mellitus, Failure to thrive, Hypothyroidism OMIM:614700
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calcitonin concentration, Pa... OMIM:162300
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Rhizomelia, Decreased response to growth hormone stimulation test, Sho... OMIM:614114
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Delayed puber... OMIM:619234
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... ORPHA:480864
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hypothyroidism OMIM:618005
Jung Syndrome
Hypothyroidism ORPHA:2321
Immunodeficiency 31C
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Weight loss, Growth delay, Delayed ... OMIM:614162
49,Xxxyy Syndrome
Eunuchoid habitus, Abnormality of the testis size, Increased circulating gonadotropin level, Prim... ORPHA:261534
Ovarian Dysgenesis 1
Increased circulating gonadotropin level OMIM:233300
Seckel Syndrome 7
Intrauterine growth retardation, Severe short stature, Central hypothyroidism OMIM:614851
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:289548
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Elevated circulating creatinine concentration, Abnormality of the hep... ORPHA:247691
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... ORPHA:168558
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Transient hyperphenylalaninemia ORPHA:98808
Microform Holoprosencephaly
Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retardation, Hypothyroi... ORPHA:280200
Ovarian Dysgenesis 5
Short stature, Decreased serum estradiol, Elevated circulating follicle stimulating hormone level... OMIM:617690
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Spondyloenchondrodysplasia
Short stature, Decreased response to growth hormone stimulation test, Disproportionate short-trun... ORPHA:1855
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, Growth delay, Hypothyroidism, Breast hypoplasia ORPHA:1439
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Hypothyroidism, Short stature ORPHA:85321
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Abnormality of thyroid physiology, Short stature, Hyperlipidemia, Disp... ORPHA:1830
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Neuhauser Syndrome
Hypercholesterolemia, Short stature, Primary hypothyroidism OMIM:249310
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatic steatosis, Increased circulating ferritin concentration, Splenomegaly, Hepa... OMIM:615846
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Short stature, Abnormality of the pancreas, Splenomegaly... OMIM:222470
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Perrault Syndrome 1
Increased circulating gonadotropin level, Short stature OMIM:233400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism ORPHA:449291
Down Syndrome
Hypothyroidism, Type II diabetes mellitus, Obesity ORPHA:870
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... ORPHA:249
49,Xyyyy Syndrome
Eunuchoid habitus, Abnormality of the testis size, Increased circulating gonadotropin level, Prim... ORPHA:99330
Rothmund-Thomson Syndrome Type 1
Calcinosis, Small for gestational age, Short stature, Cryptorchidism, Growth delay, Hypogonadism,... ORPHA:221008
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... OMIM:620103
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Recurrent pa... ORPHA:550
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Hypothyroidism, Growth delay, Failure to thrive, Slender... ORPHA:1600
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Increased serum iron, Increased total iron binding ... ORPHA:98870
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Hypothyroidism, Hepatomegaly, Shor... OMIM:243800
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic hormone secretion,... ORPHA:79330
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Xerostomia, Increased body... ORPHA:398069
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Cowden Syndrome
Short stature, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr... ORPHA:201
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Short stature, Elevated circulating creatine kinase concentration, Growth delay,... OMIM:617675
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Macronodula... OMIM:620005
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone... OMIM:188400
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor... OMIM:614129
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight loss, Enlarge... ORPHA:79078
Sarcoidosis
Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypertension, Enlarged l... ORPHA:797
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Short stature, Growth delay, Mildly elevated creatine kinase, Increased circulat... ORPHA:502423
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Koolen-De Vries Syndrome
Cryptorchidism, Hypothyroidism, Short stature ORPHA:96169
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypothyroidism, Supernumerary nipple, Hypohidrosis ORPHA:1812
Alexander Disease
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Failure to thrive, Hypothyroidism ORPHA:58
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Conjugated hyperbilirubinemia,... OMIM:620305
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Pallister-Hall Syndrome
Thyroid hypoplasia, Short stature, Adrenal hypoplasia, Large for gestational age, Precocious pube... ORPHA:672
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Scleromyxedema
Abnormality of thyroid physiology, Elevated circulating creatine kinase concentration ORPHA:167635
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Growth delay, Decreased serum zinc, Hypoalbuminemia, Dec... ORPHA:89842
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Adrenal hypoplasia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Mild... OMIM:308050
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Short stature, Cryptorchidism, Splenomegaly, Obesity, Hypopl... ORPHA:567
Stüve-Wiedemann Syndrome
Short stature, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Intrauterine growth retardation, Hyp... ORPHA:3206
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein con... ORPHA:116
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Lymphatic Malformation 6
Hydrocele testis, Splenomegaly, Hypothyroidism, Short stature OMIM:616843
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Short stature, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Growth delay, In... OMIM:300998
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol, Obe... OMIM:615300
Martin-Probst Syndrome
Cryptorchidism, Hypothyroidism, Hypoplastic nipples, Short stature OMIM:300519
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Failure to thrive, Hypothyroidism, Intrauterine growth retardation ORPHA:453499
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, Glycosuria... ORPHA:589
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Exocr... ORPHA:2255
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... ORPHA:168563
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Increased circulating gonadotropin level, Decreased serum estradiol,... ORPHA:243
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypothyroidism OMIM:603736
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Unilateral cryptorchidism, Short stature, Bilateral cryptorchidism, Cryptorchidism,... ORPHA:1772
African Trypanosomiasis
Hepatomegaly, Abnormality of the endocrine system, Splenomegaly, Jaundice, Abnormality of renin-a... ORPHA:3385
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Failure to thrive, Central hypothyroidism OMIM:300912
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Short stature, Abnormality of the endocrine system, Thyroiditis, Hepatitis, Hepatosplenomegaly, G... ORPHA:391487
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism, Proportionate short stature, Abdominal situs inversus ORPHA:2108
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Cry... ORPHA:438213
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
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
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Short stature OMIM:607944
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Short stature, Hepatosplenomegaly, Prolonged ne... ORPHA:51
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... ORPHA:363958
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Hyperthyroidism, Short stature OMIM:170390
Wrinkly Skin Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, High nonceruloplasmin-bound serum co... ORPHA:2834
1P36 Deletion Syndrome
Hepatic steatosis, Short stature, Cryptorchidism, Abnormality of the spleen, Obesity, Abnormality... ORPHA:1606
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... ORPHA:755
Complete Androgen Insensitivity Syndrome
Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, In... ORPHA:99429
Occipital Horn Syndrome
Growth delay, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... OMIM:304150
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... ORPHA:347
Williams-Beuren Syndrome
Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Short statur... OMIM:194050
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Diaphanospondylodysostosis
Intrauterine growth retardation, Abnormal liver lobulation, Disproportionate short-trunk short st... OMIM:608022
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Obesity, Hyperglycemia, Hyp... ORPHA:444077
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Mosaic Variegated Aneuploidy Syndrome
Growth delay, Intrauterine growth retardation, Hypothyroidism, Short stature ORPHA:1052
Ovarian Dysgenesis 3
Aplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:614324
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Failure to thrive, T... ORPHA:861
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:191100
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:506358
Cerebrotendinous Xanthomatosis
Cholelithiasis, Hypothyroidism, Prolonged neonatal jaundice ORPHA:909
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Portal hypertension, Cryptorchidism, Chole... OMIM:619503
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hormone level, En... ORPHA:90796
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Cutis Marmorata Telangiectatica Congenita
Intrauterine growth retardation, Hypothyroidism ORPHA:1556
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93924
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism ORPHA:352665
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
47,Xyy Syndrome
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Increased serum testost... ORPHA:8
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Abnormal liver lobulation, Intrauterine growth retardation ORPHA:99776
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:613254
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Short stature, Cryptorchidism, Failure to thrive, Hypothyroidism OMIM:619325
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Unilateral breast hypoplasia, Abnormality of thyroid physiology, Short stature OMIM:300968
Williams Syndrome
Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine kinase concentration,... ORPHA:904
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Elevated circulating alpha-feto... OMIM:259050
Intellectual Developmental Disorder, Autosomal Dominant 42
Growth delay, Failure to thrive, Congenital hypothyroidism OMIM:616973
46,Xy Partial Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Elevate... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi... ORPHA:90797
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism OMIM:271510
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, O... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, O... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, O... ORPHA:99228
Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, O... ORPHA:99226
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Microphthalmia, Syndromic 2
Short stature, Cryptorchidism, Adrenal insufficiency, Decreased body weight, Hypothyroidism OMIM:300166
Pmm2-Cdg
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... ORPHA:79318
Down Syndrome
Hypothyroidism, Short stature OMIM:190685
Microphthalmia, Syndromic 6
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitar... OMIM:607932
Ring Chromosome 13 Syndrome
Growth delay, Hypoplasia of the gallbladder, Primary hypothyroidism ORPHA:96176
Schinzel-Giedion Syndrome
Streak ovary, Failure to thrive in infancy, Central hypothyroidism, Hepatoblastoma, Annular pancreas ORPHA:798
Sponastrime Dysplasia
Rhizomelia, Small for gestational age, Precocious puberty, Disproportionate short-limb short stat... ORPHA:93357
Sotos Syndrome
Hypercalcemia, Cryptorchidism, Hydrocele testis, Prolonged neonatal jaundice, Hypothyroidism, Neo... ORPHA:821
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Obesity, Congenital hypothyroidism, Growth delay, Hypothyroidism OMIM:607872
Acrocardiofacial Syndrome
Cryptorchidism, Hyperthyroidism, Intrauterine growth retardation ORPHA:2008
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Hyperthyroidism, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decrease... ORPHA:3455
Peters Plus Syndrome
Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congenital hypothyroidis... ORPHA:709
Townes-Brocks Syndrome
Short stature, Cryptorchidism, Delayed puberty, Failure to thrive, Hypothyroidism ORPHA:857
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level OMIM:110100
Townes-Brocks Syndrome 1
Small for gestational age, Cryptorchidism, Hypothyroidism OMIM:107480
Kabuki Syndrome 1
Short stature, Premature thelarche, Postnatal growth retardation, Cryptorchidism, Congenital hypo... OMIM:147920
Viss Syndrome
Failure to thrive, Hypothyroidism, Short stature OMIM:619472
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Genitopatellar Syndrome
Cryptorchidism, Hypothyroidism 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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