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Gene: Igsf1 MGI:2147913

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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:
immunoglobulin superfamily, member 1
Synonyms:
N/A

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 Igsf1 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 Igsf1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888

The table below shows human diseases predicted to be associated to Igsf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
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
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Wolfram-Like Syndrome
Diabetes mellitus, Primary gonadal insufficiency, Delayed puberty, Male hypogonadism, Central dia... ORPHA:411590
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age OMIM:240900
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Hawkinsinuria
Failure to thrive, Hypothyroidism ORPHA:2118
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620211
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Testicular dysgenesis, Abnormality of thyroid physiology OMIM:615542
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Adrenal hypoplasia, Hypothyroidism, Cryptorchidis... ORPHA:95496
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity OMIM:614962
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Maternal Uniparental Disomy Of Chromosome 9
Failure to thrive, Congenital hypothyroidism ORPHA:96183
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:276608
Gne Myopathy
Hypothyroidism ORPHA:602
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... OMIM:609152
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty ORPHA:52022
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Abnormal circulating insulin concentration, Large for gestational age ORPHA:293964
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism ORPHA:2349
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:752
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Obesity OMIM:600955
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Failure to thrive, Diabetes mellitus, Hypothyroidism ORPHA:391372
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellitus, Ex... ORPHA:276575
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I di... ORPHA:276580
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Li-Campeau Syndrome
Cryptorchidism, Hypothyroidism OMIM:619189
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... OMIM:240300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty ORPHA:2994
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypothyroidism OMIM:610883
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes, Large for ges... ORPHA:324575
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Failure to thrive, Hypothyroidism OMIM:608104
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Hypothyroidism OMIM:618999
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Obesity OMIM:615982
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Adiposis Dolorosa
Xerostomia, Hypothyroidism, Obesity ORPHA:36397
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism ORPHA:2491
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity ORPHA:369873
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Summitt Syndrome
Obesity OMIM:272350
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Obesity OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... ORPHA:3085
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Cryptorchidism, Hypothyroidism, Delayed puberty OMIM:616817
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemic hypoglycemia, Excessive insul... ORPHA:276556
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Decreased body weight OMIM:607906
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Ddost-Cdg
Failure to thrive, Primary hypothyroidism ORPHA:300536
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Hypothyroidism OMIM:617796
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism ORPHA:1923
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Cystinosis
Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Failure to thrive, Hyp... ORPHA:213
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Decreased body weight, Hypothyroidism, Delayed puberty ORPHA:391408
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypohidrosis ORPHA:1563
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism OMIM:256300
4H Leukodystrophy
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:289494
B4Galt1-Cdg
Small for gestational age, Hypothyroidism ORPHA:79332
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Lig4 Syndrome
Small for gestational age, Cryptorchidism, Type II diabetes mellitus, Failure to thrive, Hypothyr... OMIM:606593
Jung Syndrome
Hypothyroidism ORPHA:2321
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Obesity ORPHA:2233
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Failure to thrive, Hypothyroidism, Decreased response to growth hormone stimu... OMIM:618922
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Failure to thrive in infancy OMIM:618829
Omenn Syndrome
Failure to thrive, Hypothyroidism, Thyroiditis ORPHA:39041
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... ORPHA:412057
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:609053
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty OMIM:615952
Smith-Magenis Syndrome
Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty, Hypothyroidism ORPHA:819
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Decreased serum testosterone conce... ORPHA:465508
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Dysbetalipoproteinemia
Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Decreased body weight, Hypo... ORPHA:1667
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hypothyroidism, Obesity ORPHA:254346
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Hypothyroidism OMIM:304790
Reni Syndrome
Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency OMIM:617575
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic isl... ORPHA:263455
Isolated Atp Synthase Deficiency
Hypogonadism, Hypothyroidism ORPHA:254913
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... ORPHA:2905
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Cryptorchidism, Hypothyroidism ORPHA:397590
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism OMIM:619750
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Diabetes mellitus, Hypothyroidism ORPHA:98673
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Failure to thrive, Hypothyroidism OMIM:619147
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Isolated Biliary Atresia
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive... ORPHA:30391
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Immunodeficiency 102
Hypothyroidism OMIM:301082
Fucosidosis
Failure to thrive, Hypothyroidism, Hyperhidrosis ORPHA:349
Monosomy 18P
Hypothyroidism ORPHA:1598
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Delayed puberty, Hypere... ORPHA:456312
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... ORPHA:231226
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Cryptorchidism... ORPHA:398069
Allan-Herndon-Dudley Syndrome
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Crypt... ORPHA:59
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Obesity OMIM:612463
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy OMIM:606367
Secondary Short Bowel Syndrome
Weight loss, Failure to thrive, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis, Failure to thrive in infancy OMIM:613385
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:619234
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism ORPHA:263297
Down Syndrome
Hypothyroidism, Type II diabetes mellitus, Obesity ORPHA:870
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot... ORPHA:231222
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Timothy Syndrome
Hypothyroidism OMIM:601005
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Abnormality of t... ORPHA:209905
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism ORPHA:449291
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, Hypothyroidism, Breast hypoplasia ORPHA:1439
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
Lig4 Syndrome
Cryptorchidism, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... ORPHA:231214
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Hypothyroidism ORPHA:85321
Oculoskeletodental Syndrome
Small for gestational age, Cryptorchidism, Hypothyroidism OMIM:618440
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Diabetes mellitus, Hypothyroidism, Truncal obesity OMIM:616541
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Maternal diabetes ORPHA:280200
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy ORPHA:228426
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Thyroiditis OMIM:614700
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:96179
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Distal Xq28 Microduplication Syndrome
Hypothyroidism ORPHA:293939
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism OMIM:300623
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Monosomy 18Q
Bilateral cryptorchidism, Hypothyroidism, Failure to thrive, Slender build, Secondary growth horm... ORPHA:1600
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Abdominal obesity, Obesity OMIM:219090
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypothyroidism, Supernumerary nipple, Hypohidrosis ORPHA:1812
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypothyroidism OMIM:618005
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Failure to thrive, Hypothyroidism, Weight loss OMIM:619487
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Hypohidrosis, Abnormal... ORPHA:3157
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Cog2-Cdg
Small pituitary gland ORPHA:435934
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
Whipple Disease
Hypothyroidism, Cachexia ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism OMIM:617713
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight OMIM:182290
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Delayed puberty, Failure to thrive, Hypothyroidism, Exocr... OMIM:616263
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Abnormal circulating leptin concentration, Enlarged... ORPHA:2298
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:618183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... ORPHA:37042
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... ORPHA:550
3-Methylglutaconic Aciduria Type 7
Hypothyroidism ORPHA:445038
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism OMIM:226300
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism ORPHA:2479
Müllerian Aplasia And Hyperandrogenism
Obesity, Abnormality of the ovary, Increased serum testosterone level ORPHA:247768
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Increased circ... ORPHA:1772
Koolen-De Vries Syndrome
Cryptorchidism, Hypothyroidism ORPHA:96169
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Hypothyroidism ORPHA:66634
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypothyroidism OMIM:603736
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Pancreatic cysts, Elevated circulating thyroid-stimulating hormone concentrati... OMIM:610199
Alexander Disease
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Failure to thrive, Hypothyroidism ORPHA:58
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Failure to thrive, Hypothyroidism, Goiter ORPHA:254892
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hypergonadotropic hypogonadism, Hypothyroidism OMIM:212065
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Congenital hypothyroidism OMIM:617930
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Hypoplastic nipples, Decreased body weight, Cholelithiasis, Hypothyroidis... OMIM:618268
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Streak ovary, Obesity OMIM:194072
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Weight loss OMIM:613673
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiolog... ORPHA:93111
Immunodeficiency 31C
Weight loss, Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, Hypothyroidism, Hydrocele testis ORPHA:79330
Interstitial Lung And Liver Disease
Failure to thrive, Hypothyroidism OMIM:615486
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Failure to thrive, Hypothy... ORPHA:3047
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Overweight, Obesity, Cholelithiasis, Pancreatitis ORPHA:69663
Martin-Probst Syndrome
Cryptorchidism, Hypothyroidism, Hypoplastic nipples OMIM:300519
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Failure to thrive, Hypothyroidism ORPHA:453499
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Decreased body weight ORPHA:314621
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Neuhauser Syndrome
Primary hypothyroidism OMIM:249310
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... ORPHA:227982
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Bilateral cryptorchidism, Cryptorchidism, Decreased testicular size, Central hypothyroidism OMIM:300998
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
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
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
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys... ORPHA:227990
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Failure to thrive, Small for gestational age, Abnormality of thyroid physiology ORPHA:1830
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Central hypothyroidism OMIM:300912
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Cryptorchidism, Decreased circ... OMIM:620305
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Cryptorchidism, Hypothyroidism, Small for gestational age ORPHA:221008
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ... ORPHA:94089
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:191100
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism OMIM:607944
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Thyroiditis, Polycystic ovaries, Delayed puberty, Failure to thrive, Hypothyroidism, Pancreatitis ORPHA:79259
Lymphatic Malformation 6
Hydrocele testis, Hypothyroidism OMIM:616843
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Overgrowth, Hypothyroidism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Overgrowth, Hypothyroidism ORPHA:352665
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism ORPHA:93256
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Conge... ORPHA:2255
Syndromic Diarrhea
Small for gestational age, Hypothyroidism, Hypoplasia of the thymus ORPHA:84064
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Hypothyroidism ORPHA:457212
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Large for gestational age, Adrenocortical carcinoma, Cryptorchidism, A... ORPHA:116
Abetalipoproteinemia
Failure to thrive, Hypothyroidism ORPHA:14
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Cryptorchidism, Obesity, Hypoplasia of the thymus, Cholelith... ORPHA:567
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Myasthenia Gravis
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis ORPHA:589
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism ORPHA:247691
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity ORPHA:444077
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Leprechaunism
Enlarged ovaries, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circula... ORPHA:508
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Obesity, Parathyroid hypop... OMIM:188400
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism ORPHA:480864
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypothyroidism ORPHA:411634
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:613254
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Increased circulating prolactin concentration OMIM:617675
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:506358
Scleromyxedema
Abnormality of thyroid physiology ORPHA:167635
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism ORPHA:2108
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:620005
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Weight loss OMIM:615846
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
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
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Fg Syndrome Type 1
Cryptorchidism, Slender build, Small pituitary gland ORPHA:93932
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism ORPHA:1556
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Increased circulating prolactin concentration ORPHA:502423
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism ORPHA:1052
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Sotos Syndrome
Cryptorchidism, Overgrowth, Increased body weight, Tall stature OMIM:117550
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
1P36 Deletion Syndrome
Cryptorchidism, Obesity, Hypogonadism, Annular pancreas, Failure to thrive, Hypothyroidism ORPHA:1606
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Polycystic ovaries, Increased body weight, Delayed puberty ORPHA:264580
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Thyroiditis, Primary hypothyroidism, Delayed puberty, Type I... ORPHA:391487
Cerebrotendinous Xanthomatosis
Cholelithiasis, Hypothyroidism ORPHA:909
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Cystinosis, Nephropathic
Diabetes mellitus, Failure to thrive in infancy, Hypohidrosis, Weight loss, Primary hypothyroidis... OMIM:219800
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Unilateral breast hypoplasia, Abnormality of thyroid physiology OMIM:300968
Aicardi-Goutières Syndrome
Diabetes mellitus, Hypothyroidism ORPHA:51
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Congenital hypothyroidism OMIM:616973
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Abnormality of the anter... ORPHA:438213
Microphthalmia, Syndromic 6
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitar... OMIM:607932
Infantile Nephropathic Cystinosis
Failure to thrive, Abnormality of thyroid physiology ORPHA:411629
Microphthalmia, Syndromic 2
Cryptorchidism, Decreased body weight, Hypothyroidism, Adrenal insufficiency OMIM:300166
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Enlarged lacrimal glands, Weight loss, Enlargement of paroti... ORPHA:797
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Down Syndrome
Hypothyroidism OMIM:190685
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Hypothyroidism, Obesity, Congenital hypothyroidism OMIM:607872
Coffin-Siris Syndrome 12
Cryptorchidism, Failure to thrive, Hypothyroidism OMIM:619325
Williams Syndrome
Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious puberty, Cryptorchidism, ... ORPHA:904
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni... ORPHA:449563
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Polycystic ovaries ORPHA:79240
Williams-Beuren Syndrome
Diabetes mellitus, Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Hypot... OMIM:194050
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Small for gestational age ORPHA:93357
Schinzel-Giedion Syndrome
Annular pancreas, Streak ovary, Failure to thrive in infancy, Central hypothyroidism ORPHA:798
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Trun... OMIM:259050
Johanson-Blizzard Syndrome
Diabetes mellitus, Small for gestational age, Cryptorchidism, Hypoplastic nipples, Primary hypoth... OMIM:243800
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis, Pancr... ORPHA:449395
Townes-Brocks Syndrome
Cryptorchidism, Failure to thrive, Hypothyroidism, Delayed puberty ORPHA:857
Townes-Brocks Syndrome 1
Small for gestational age, Cryptorchidism, Hypothyroidism OMIM:107480
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Primary hypothyroidism ORPHA:96176
Viss Syndrome
Failure to thrive, Hypothyroidism OMIM:619472
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland OMIM:619479
Genitopatellar Syndrome
Cryptorchidism, Hypothyroidism OMIM:606170
Sotos Syndrome
Hydrocele testis, Cryptorchidism, Hypothyroidism, Tall stature ORPHA:821
Peters Plus Syndrome
Cryptorchidism, Anterior hypopituitarism, Congenital hypothyroidism ORPHA:709
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Alström Syndrome
Decreased testicular size, Precocious puberty in females, Decreased response to growth hormone st... ORPHA:64
Hellp Syndrome
Increased body weight ORPHA:244242
Kabuki Syndrome 1
Cryptorchidism, Premature thelarche, Congenital hypothyroidism OMIM:147920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Fai... OMIM:619503

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 Igsf1

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 Igsf1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The IgCAM BT-IgSF (IgSF11) is essential for connexin43-mediated astrocyte-astrocyte coupling in mice. eNeuro (February 2024) Igsf11tm1e(KOMP)Wtsi PMC10957231
IgSF11 deficiency alleviates osteoarthritis in mice by suppressing early subchondral bone changes. Experimental & molecular medicine (December 2023) Igsf11tm1d(KOMP)Wtsi PMC10767117
Lack of the Ig cell adhesion molecule BT-IgSF (IgSF11) induced behavioral changes in the open maze, water maze and resident intruder test. PloS one (January 2023) Igsf11tm1e(KOMP)Wtsi PMC9821459
The cell adhesion molecule BT-IgSF is essential for a functional blood-testis barrier and male fertility in mice. The Journal of biological chemistry (November 2017) Igsf11tm1e(KOMP)Wtsi PMC5766970
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Igsf11tm1b(KOMP)Wtsi PMC5503261
Synaptic adhesion molecule IgSF11 regulates synaptic transmission and plasticity. Nature neuroscience (November 2015) Igsf11tm1a(KOMP)Wtsi Igsf11tm1d(KOMP)Wtsi PMC5010778

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MGI Allele Allele Type Produced
Igsf1tm97127(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Igsf1tm448343(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Igsf1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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