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Gene: Dio1 MGI:94896

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Gene Summary

Name:
deiodinase, iodothyronine, type I
Synonyms:
D1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Dio1em1(IMPC)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Dio1 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 Dio1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855

The table below shows human diseases predicted to be associated to Dio1 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, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... OMIM:188570
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... OMIM:620211
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increase... ORPHA:94086
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... OMIM:603233
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemi... OMIM:246700
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Bardet-Biedl Syndrome 11
Hypogonadism, Abnormality of the kidney, Obesity OMIM:615988
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age OMIM:240900
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Perineal hypospadias OMIM:615542
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... ORPHA:2118
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
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
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Potocki-Lupski Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal morphology, Gastroesophageal... OMIM:610883
Wolfram-Like Syndrome
Diabetes mellitus, Abnormality of the upper urinary tract, Primary gonadal insufficiency, Delayed... ORPHA:411590
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity ORPHA:329249
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Leptin Deficiency Or Dysfunction
Micropenis, Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age, Abnormal circulating insulin concentration, Increased... ORPHA:293964
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Renal insufficiency, Congenital nephrotic syndrome,... OMIM:256300
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Constipation, Hypothyroidism OMIM:275120
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... OMIM:609152
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypogonadism, M... ORPHA:3363
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Glutaric Aciduria Iii
Hyperthyroidism, Glutaric aciduria, Diarrhea, Vomiting, Failure to thrive, Goiter OMIM:231690
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Hypogonadism, Obesity, Micropenis ORPHA:85274
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... ORPHA:90673
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, ... ORPHA:263455
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Transi... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:276608
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogon... OMIM:615993
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, ... ORPHA:79319
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f... ORPHA:276575
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Chronic diarrhea, Nephrotic syndr... ORPHA:85445
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Obesity, Hypoinsul... OMIM:600955
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes, Large for ges... ORPHA:324575
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Decrease... OMIM:618156
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I di... ORPHA:276580
Cystinosis
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Hypophosphatemia, Renal tubular... ORPHA:213
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Episodic hyperhidrosis, Decreased circulating free fatty acid level, H... ORPHA:276556
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... OMIM:617575
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Joubert Syndrome 26
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... OMIM:616784
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dia... ORPHA:96180
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Proteinuria, Diarrhea, Renal cyst, Steatorrhea, Nephrotic syndrom... OMIM:212065
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Hyperinsulinemia, Primary hy... ORPHA:97279
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Chylomicron Retention Disease
Hypertriglyceridemia, Diarrhea, Vomiting, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Gne Myopathy
Hypothyroidism, Mildly elevated creatine kinase ORPHA:602
Pendred Syndrome
Increased circulating thyroglobulin level, Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Diarrhea, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... OMIM:203800
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus ORPHA:791
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Overweight, Constipation, Fai... ORPHA:391372
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... ORPHA:411634
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... ORPHA:79445
Athyreosis
Thyroid agenesis, Constipation, Hypothyroidism ORPHA:95713
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight, Increased total bilirubin ORPHA:890
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity ORPHA:369873
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty ORPHA:52022
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Elevated circulating creatinine concentration, Hypoalbuminemia, Vomiting, Decreased cir... OMIM:608104
Bardet-Biedl Syndrome 4
Hypogonadism, Abnormality of the kidney, Renal cyst, Obesity OMIM:615982
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... ORPHA:412
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Diarrhea, Activat... ORPHA:424
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Intellectual Developmental Disorder, Autosomal Dominant 67
Gastroesophageal reflux, Hypothyroidism OMIM:619927
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... OMIM:240300
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Pitu... ORPHA:90674
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Thyroid Dyshormonogenesis 1
Constipation, Hypothyroidism, Goiter OMIM:274400
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... OMIM:612885
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:99819
Bardet-Biedl Syndrome 8
Hypogonadism, Renal dysplasia, Hypospadias, Obesity OMIM:615985
Maternal Uniparental Disomy Of Chromosome 9
Failure to thrive, Congenital hypothyroidism ORPHA:96183
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... ORPHA:453533
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology, Increased body... OMIM:182290
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Ddost-Cdg
Gastroesophageal reflux, Constipation, Primary hypothyroidism, Failure to thrive, Nephrotic range... ORPHA:300536
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:3085
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Large for gestational age, Hypop... OMIM:616026
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... OMIM:618183
Thyroid Lymphoma
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia, Failure to thrive, Hypothyroidism OMIM:618999
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Constipation, Hypothyroidism ORPHA:2349
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Hypothyroidism, Constipation OMIM:301058
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Vomiting, Mild proteinu... OMIM:619147
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Hypoalbuminemia, Gastroe... ORPHA:79324
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... OMIM:616113
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter ORPHA:705
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body... ORPHA:2298
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Chronic diarrhea, Decreased LDL chole... ORPHA:14
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... ORPHA:562
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Abnormality of thyroid physiology, Small for gestational age, Min... ORPHA:1830
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Obesity, Hypogonadism, ... ORPHA:2234
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Chronic ... ORPHA:261222
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... ORPHA:819
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Failure to thrive, Adrenal hypoplasia, Hypothyr... ORPHA:95496
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... ORPHA:1667
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:91355
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypohidrosis, Hypocalcemia, Nephropathy, Hypothyroidism ORPHA:1563
B4Galt1-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Decrease... ORPHA:79332
Allan-Herndon-Dudley Syndrome
Decreased body mass index, Small for gestational age, Abnormality of thyroid physiology, Failure ... ORPHA:59
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Reduced circulating transferrin concentration, Chronic diarrhea, Intestin... ORPHA:90363
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase ORPHA:663
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Failure to thrive, Hypospadias, Decreased response ... ORPHA:363528
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Igg4-Related Thyroid Disease
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... ORPHA:64744
Dystonia 28
Precocious puberty, Hypothyroidism, Dysphagia ORPHA:589618
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism ORPHA:36397
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Secondary Short Bowel Syndrome
Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Enterocolitis, Central hypothy... ORPHA:95427
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development, Micro... OMIM:610628
Isolated Atp Synthase Deficiency
Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypogonadism, Hyperalaninemia, Hyp... ORPHA:254913
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... ORPHA:91347
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia OMIM:618810
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia OMIM:619013
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Li-Campeau Syndrome
Micropenis, Hypothyroidism OMIM:619189
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Dysphagia, Hypothyroidism... OMIM:222300
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Hypothyroidism, Hypogonadotropic hypogonadism ORPHA:752
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Congenital Disorder Of Glycosylation, Type Ii
Gastroesophageal reflux, Diarrhea, Hypothyroidism, Decreased body weight OMIM:607906
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxicosis with diffuse goiter,... ORPHA:525731
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Omenn Syndrome
Chronic diarrhea, Thyroiditis, Nephrotic syndrome, Failure to thrive, Hypothyroidism ORPHA:39041
Acetazolamide-Responsive Myotonia
Hypothyroidism, Dysphagia ORPHA:99736
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Failure to thrive in infancy, Chronic constipation, Gastroesophagea... OMIM:618829
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Constipation, Gastroesophageal reflux, Increased body weight ORPHA:589905
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Small for gestational age, Hypercalciuria, Mucopolysacchariduria, ... OMIM:618440
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Obesity, Congenital hypothyroidism OMIM:614613
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Hypothyroidism, Renal hypoplasia, Delayed puberty OMIM:616817
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism ORPHA:2491
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Obesity, Hypokalemia, Abdom... OMIM:219090
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Renal insufficiency... ORPHA:93111
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty ORPHA:2994
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Failure to thrive in infancy, Gastritis, Cachexia, Abnormality of the endocrine ... ORPHA:37042
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Scleromyxedema
Abnormality of thyroid physiology, Elevated circulating creatine kinase concentration, Hypoperist... ORPHA:167635
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Chronic diarrhea, Ileus, Type I diabetes mellitus, Failure to thrive, Hypothy... OMIM:304790
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension ORPHA:401923
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3... OMIM:251900
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Obesity, Renal cyst OMIM:605231
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism OMIM:613970
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Increased bod... ORPHA:264580
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Acute pancreatitis, Thicken... OMIM:619487
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... OMIM:616629
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Intellectual Developmental Disorder, Autosomal Dominant 52
Overweight, Chronic constipation, Hypothyroidism, Small for gestational age OMIM:617796
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Hyperlipidemia, Obesity, Hypothyroidism ORPHA:254346
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi... OMIM:609053
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Decreased body weight, Hypothyroidism, Delayed puberty ORPHA:391408
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Diarrhea, Thyroiditis, Stage 5 chronic kidney ... ORPHA:79259
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increa... ORPHA:251004
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Increased serum iron, Hypogonadism, Adrenal insuffi... ORPHA:300298
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Abn... ORPHA:209905
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Obesity, Increased serum testosterone level ORPHA:247768
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharynge... OMIM:616878
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypomagnesemia OMIM:619908
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Constipation, Hypocholesterolemia OMIM:244450
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism, Hypospadias ORPHA:1923
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Elevated circulating C-reactive protein concentration, Elevated circulating amylo... OMIM:619750
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Delayed menarche, H... ORPHA:412057
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Dysphagia, Abnormal thymus morphology, Glycosuria... ORPHA:589
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ... OMIM:269200
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Prader-Willi Syndrome
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Lig4 Syndrome
Small for gestational age, Type II diabetes mellitus, Micropenis, Failure to thrive, Hypothyroidism OMIM:606593
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... ORPHA:769
Fucosidosis
Failure to thrive, Mucopolysacchariduria, Hypothyroidism, Hyperhidrosis ORPHA:349
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Truncal obesity, ... OMIM:616541
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen... ORPHA:398079
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Increased bod... ORPHA:79240
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Hypothyroidism, Diarrhea, Hypoalbuminemia, Vomiting, Hypoproteinemia OMIM:226300
Isolated Biliary Atresia
Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Xanthelasma, Severe ... ORPHA:30391
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Proximal tubulopathy, Hypogonadism, Adrenal insufficiency,... ORPHA:231222
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Renal hypoplasia, Hypothyroidism, Renal dysplasia ORPHA:85321
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Elevated... ORPHA:96179
Thyroid Hypoplasia
Constipation, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Proteinuria, Diarrhea, Foca... ORPHA:550
Dubowitz Syndrome
Hypospadias, Chronic diarrhea, Gastroesophageal reflux, Hypocholesterolemia, Episodic vomiting OMIM:223370
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Type I diabetes mellitus, Achalasia, Hypothyroidism, Exocrine pancreatic insuffi... OMIM:615952
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypothyroidism, Microphallus, Hypospadias ORPHA:397590
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Unilateral renal agenesis, Elevated circulating thyroid-stimulating ho... OMIM:101800
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... ORPHA:699
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Hypothyroidism ORPHA:445038
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Diabetes mellitus, Hypothyroidism, Dysphagia ORPHA:98673
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Chronic diarrhea, Gastroesophageal reflux, Type I diabetes mellitus... OMIM:613385
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615108
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Xerostomia, In... ORPHA:398069
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Diarrhea, Adrenal insufficie... ORPHA:231226
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Urinary incontinence, Bowel incontinence OMIM:300623
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Abnormal pineal melatonin secretion, Increased serum bile acid concent... ORPHA:69665
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Aplasia of the thymus, Diarrhea, Thyroiditis, Hypocalcemic te... ORPHA:83471
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Perineal hypospadias, 3-Methylglutaconic aciduria, Elevated circulating glut... ORPHA:66634
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Chronic diarrhea, Thyroiditis, Inflammation of the large intestine, Colitis, ... OMIM:614700
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:615109
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Chronic diarrhea, Thyroiditis, Type I diabetes mellitus, Hypothyroi... OMIM:606367
Multifocal Atrial Tachycardia
Hypothyroidism ORPHA:3282
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Overweight, Obesity, Hypercholesterolemia, Pancreatitis ORPHA:69663
Down Syndrome
Obesity, Hypothyroidism, Type II diabetes mellitus, Renal hypoplasia/aplasia ORPHA:870
Interstitial Lung And Liver Disease
Hyperammonemia, Aminoaciduria, Vomiting, Failure to thrive, Hypothyroidism OMIM:615486
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism, Abnormal circulating creatine kinase concentration ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hypothyroidism, Elevated circulating creatine kinase concentration OMIM:617713
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Hypothyroidism, Dysphagia, Failure to thri... OMIM:618922
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight, Horseshoe kidney OMIM:300860
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Gastroesophageal reflux ORPHA:449291
Jung Syndrome
Hypothyroidism ORPHA:2321
Immunodeficiency 102
Hypothyroidism OMIM:301082
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Gastropar... ORPHA:254892
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Diarrhea, Adrenal insufficie... ORPHA:231214
Monosomy 18P
Hypothyroidism ORPHA:1598
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Increased circulating thyroglobulin level, Elevated circulating thyroid-stimul... OMIM:610199
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, H... ORPHA:90041
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Cachexia, Diarrhea, Hypothyroidism ORPHA:3452
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Hypospadias, Abnormality of the kidney, Epispadias, Increased circulating gonadotro... ORPHA:1772
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Acute Monoblastic/Monocytic Leukemia
Weight loss, Oliguria, Central hypothyroidism ORPHA:514
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Weight loss, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Micropenis, Reduce... OMIM:613673
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Diabetes mellitus, Delayed puberty, Failure to thrive, Hypothyroidism, Exocrine pancreatic insuff... ORPHA:456312
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... ORPHA:2905
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... ORPHA:2495
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Neonatal hyperbilirubinemia ORPHA:293939
Bardet-Biedl Syndrome 20
Proteinuria, Hypercholesterolemia, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter OMIM:158350
Lig4 Syndrome
Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Hypothyroidism, Decreased response to growth hormone stimulat... OMIM:619234
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Renal d... ORPHA:96169
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... OMIM:620305
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia ORPHA:3258
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hemat... ORPHA:1855
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Abnormality of thyroid physiology, Hydronephrosis OMIM:300968
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Steatorrhea, Failure to thrive, Hypothyroidism, Delayed puberty, Exocrine panc... OMIM:616263
Microform Holoprosencephaly
Hypoplasia of penis, Renal agenesis, Maternal diabetes, Panhypopituitarism, Hypothyroidism ORPHA:280200
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Chordee, Micropenis, Hypothyroidism OMIM:300519
Ring Chromosome 12 Syndrome
Small for gestational age, Hypothyroidism, Glandular hypospadias ORPHA:1439
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Elevated circulating creatinine concentration, Glomerul... ORPHA:247691
Thyroid Ectopia
Abnormality of the thyroid gland, Constipation, Hypothyroidism, Ectopic thyroid ORPHA:95712
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive, Hypothyroidism OMIM:618005
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... ORPHA:480864
Leprechaunism
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... ORPHA:508
Familial Multinodular Goiter
Renal cell carcinoma, Hyperthyroidism, Multinodular goiter, Thyroid carcinoma ORPHA:276399
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Elevated circulating creatine kinase concentration, Increased circulating prolac... OMIM:617675
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Centr... ORPHA:488632
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Alexander Disease
Diabetes mellitus, Bowel incontinence, Precocious puberty, Hyperhidrosis, Constipation, Dysphagia... ORPHA:58
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy ORPHA:228426
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism, Dysphagia OMIM:249310
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Tall stature, Elevated circulating alpha-fetopro... ORPHA:116
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Steatorrhea, Gastroesophageal reflux, Recurrent pancreatitis, Increased serum b... OMIM:618268
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Gastroesophageal reflux, Constipation, Vesicoureteral reflux, Failure to thrive, ... ORPHA:453499
Sotos Syndrome
Abnormality of the kidney, Increased body weight, Overgrowth, Gastroesophageal reflux, Episodic v... OMIM:117550
Monosomy 18Q
Hypothyroidism, Micropenis, Failure to thrive, Slender build, Secondary growth hormone deficiency ORPHA:1600
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Mildly elevated creatine kinase, Increased circulating prolactin concentration ORPHA:502423
Hellp Syndrome
Proteinuria, Increased body weight, Hemoglobinuria, Vomiting, Acute kidney injury, Nausea ORPHA:244242
Fragile X-Associated Tremor/Ataxia Syndrome
Bowel incontinence, Pollakisuria, Dysphagia, Urinary bladder sphincter dysfunction, Hypothyroidism ORPHA:93256
Syndromic Diarrhea
Small for gestational age, Gastritis, Renal hypoplasia, Bloody diarrhea, Colitis, Hypoplasia of t... ORPHA:84064
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis OMIM:615989
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hypothyroidism, Hypohidrosis ORPHA:1812
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
White-Kernohan Syndrome
Hydroureter, Obesity, Horseshoe kidney, Gastroesophageal reflux, Hypothyroidism, Hydronephrosis OMIM:619426
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Intellectual Developmental Disorder, X-Linked 98
Steroid-dependent nephrotic syndrome, Urinary incontinence, Central hypothyroidism, Gastroesophag... OMIM:300912
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Diarrhea, Weight l... OMIM:615846
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Transient hyperphenylalaninemia ORPHA:98808
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Decreased circulating parathyroid hor... OMIM:188400
Pseudoxanthoma Elasticum
Nephrocalcinosis, Hypothyroidism, Gastrointestinal hemorrhage ORPHA:758
Immunodeficiency 31C
Diabetes mellitus, Diarrhea, Weight loss, Delayed puberty, Hypothyroidism OMIM:614162
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:268261
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Hypospadias, Bowel incontinence... ORPHA:567
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Type II diabetes mell... ORPHA:91
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, Chronic constipation, Hypothyroidism ORPHA:79330
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Hypospadias OMIM:603736
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Rothmund-Thomson Syndrome Type 1
Calcinosis, Small for gestational age, Diarrhea, Hypogonadism, Vomiting, Hypothyroidism ORPHA:221008
Carney Complex
Tall stature, Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:1359
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Episodic vomiting, Hyperhidrosis, Overgrowth, Constipation, Vesicoureteral reflux,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Episodic vomiting, Hyperhidrosis, Overgrowth, Constipation, Vesicoureteral reflux,... ORPHA:352665
Williams-Beuren Syndrome
Nephrocalcinosis, Early onset of sexual maturation, Gastroesophageal reflux, Vesicoureteral reflu... OMIM:194050
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Hypothyroidism OMIM:191100
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Hypospadias ORPHA:2008
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Hyperthyroidism OMIM:170390
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Nephrolithiasis, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Diarrhea, Functional abnormality of the bladder, Thyroiditis... ORPHA:391487
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ga... ORPHA:444077
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Congenital hypothyroidism ORPHA:2519
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Hypothyroidism ORPHA:457212
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Ectopic thyroid, Failure to thrive, Hypothyroidism, Thyroid... ORPHA:3047
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Tubulointerstitial fibrosis OMIM:607944
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased res... ORPHA:3455
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Obesity, Renal cyst, Hypogonadism, G... ORPHA:1606
Familial Adenomatous Polyposis
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... ORPHA:733
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Nephrolithiasis, Hyperca... ORPHA:797
Lymphatic Malformation 6
Gastroesophageal reflux, Hypothyroidism OMIM:616843
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Congenital hypothyroidism, Gastroesophageal reflux, Unconjugated hyperbili... OMIM:620186
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Hypothyroidism ORPHA:1556
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Renal hypoplasia, Exocrine pancreatic insufficiency OMIM:620005
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the... ORPHA:438213
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Hypothyroidism, Nephroblastoma ORPHA:1052
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... ORPHA:506358
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Co... ORPHA:2255
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Small for gestational age, Urethrovaginal fistula, Increased VLDL... OMIM:243800
Coffin-Siris Syndrome 12
Hypospadias, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux, Failure to thrive, ... OMIM:619325
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Ectopic kidney, Obesity, Congenital hypothyroidism, Gastroesophageal reflux, Constip... OMIM:607872
Cerebrotendinous Xanthomatosis
Chronic diarrhea, Hypothyroidism ORPHA:909
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Small for gestati... OMIM:107480
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Aicardi-Goutières Syndrome
Micropenis, Diabetes mellitus, Hypothyroidism ORPHA:51
Hallermann-Streiff Syndrome
Hypothyroidism ORPHA:2108
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
Microphthalmia, Syndromic 2
Decreased body weight, Hypothyroidism, Hypospadias, Adrenal insufficiency OMIM:300166
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Microphthalmia, Syndromic 6
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Renal hypoplasia, Anterior hypopituit... OMIM:607932
Ring Chromosome 13 Syndrome
Hypospadias, Urogenital sinus anomaly, Primary hypothyroidism, Micropenis, Abnormal renal physiology ORPHA:96176
Down Syndrome
Hypothyroidism OMIM:190685
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Hypospadias, Small for gestational age ORPHA:93357
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent... OMIM:259050
Viss Syndrome
Chronic gastritis, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux, Dysphagia, Fa... OMIM:619472
Genitopatellar Syndrome
Multicystic kidney dysplasia, Dysphagia, Micropenis, Hypothyroidism, Hydronephrosis OMIM:606170

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 Dio1

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 Dio1.

No publications found that use IMPC mice or data for Dio1.

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
Dio1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dio1em1(IMPC)Hmgu Exon Deletion Mice
Dio1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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