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Gene: Serp1 MGI:92638

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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:
stress-associated endoplasmic reticulum protein 1
Synonyms:
D3Ucla1

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 Serp1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Serp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Small pituitary gland, Decreased testicular size OMIM:614880
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Limb joint contracture, Central adrenal i... OMIM:612079
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
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
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... ORPHA:90673
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
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentratio... OMIM:219080
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased body weight, Increase... OMIM:615830
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism... ORPHA:398079
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Cog2-Cdg
Small pituitary gland ORPHA:435934
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism, Thenar muscl... ORPHA:2232
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Prader-Willi Syndrome
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... ORPHA:739
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Osteopor... ORPHA:398069
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... ORPHA:95716
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter OMIM:188580
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Osteolysis,... ORPHA:163634
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid nodule, Goiter OMIM:180295
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... ORPHA:324575
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Thyroid Hypoplasia
Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:98754
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus OMIM:610947
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:98793
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:177901
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Goiter OMIM:274240
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... OMIM:609152
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Thyrocerebrorenal Syndrome
Euthyroid goiter, Abnormality of the musculature of the limbs ORPHA:3327
Anaplastic Thyroid Carcinoma
Weight loss, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Nodular goiter, G... ORPHA:142
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty OMIM:616033
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... ORPHA:91347
Blepharochalasis And Double Lip
Goiter OMIM:109900
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of secondary se... ORPHA:785
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce... ORPHA:1332
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Abnormality of the hyp... ORPHA:3157
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... OMIM:615849
Fg Syndrome Type 1
Progressive flexion contractures, Craniosynostosis, Cryptorchidism, Small pituitary gland, Slende... ORPHA:93932
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... ORPHA:90791
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Type I ... ORPHA:276575
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... OMIM:618187
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:95494
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Calf muscle hyp... ORPHA:280356
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased muscle mass, Elevated circulating luteinizing hormone level, Decreased circulating foll... OMIM:229070
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Osteomalacia, Primary hypercort... ORPHA:562
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Solitary Fibrous Tumor
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia ORPHA:2126
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... ORPHA:90790
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density OMIM:619489
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Flexion contracture, Epiphyseal stippling, Stillbirth, Thyroid hypoplasia OMIM:308050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, F... ORPHA:3047
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost... ORPHA:371428
Tenorio Syndrome
Osteopenia, Macroglossia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... ORPHA:3085
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle f... ORPHA:254892
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Pediatric-Onset Graves Disease
Craniosynostosis, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased ci... ORPHA:525731
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decre... OMIM:614837
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Abnormality of bone ... ORPHA:861
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Bone cyst, Hyperinsulinemia... ORPHA:528
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Abnormality of t... ORPHA:209905
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Small pituitary gland OMIM:619479
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pol... OMIM:604367
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:619004
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Giant Axonal Neuropathy
Abnormality of the Achilles tendon, Limb muscle weakness, Abnormal pituitary gland morphology, Fa... ORPHA:643
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased c... OMIM:219090
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Large for gestational age, Precocious puberty, Cryptorchi... ORPHA:672
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Prolactinoma
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo... ORPHA:2965
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Facial palsy, Congenital hypothyroidism, Hydrocele testis, ... OMIM:620186
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Myopathy, Pheochromocytoma, Elevated circulating calcitonin concent... OMIM:162300
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cel... OMIM:246200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Centrally nucleated skeletal muscle fibers, Insulin resistance, Flexion contracture, ... OMIM:613327
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Thyroid Ectopia
Abnormality of the thyroid gland, Macroglossia, Hypothyroidism, Ectopic thyroid ORPHA:95712
Lenz-Majewski Hyperostotic Dwarfism
Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee flexion contractur... OMIM:151050
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Insulin resistance, Hyperinsulinemia ORPHA:363400
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothalamu... ORPHA:264200
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Cryptorchi... ORPHA:464306
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:611812
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Decreased response to growth hormone stimulation test, Cryptorchidism, Flexion c... OMIM:619503
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Contractures of the la... ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Glucose intolerance, ... OMIM:608612
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Camptodactyly of finger, Flexion contracture, Osteopor... ORPHA:3206
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsu... ORPHA:79086
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Multinodular goiter, Ovarian neoplasm, Thyroid carcin... ORPHA:276399
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Microphthalmia, Syndromic 3
Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Bone... ORPHA:201
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth ho... OMIM:176270
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Flexion ... OMIM:248370
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... ORPHA:466791
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... ORPHA:769
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contracture, Obesity, A... OMIM:181450
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... ORPHA:3464
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d... ORPHA:79474
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... ORPHA:653
Branchiootorenal Syndrome 1
Euthyroid goiter, Facial palsy OMIM:113650
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cryptorchidism, Aplasia of the right hemidiaphragm, Anterior pituitary hypoplasia, Limb hypertonia OMIM:619841
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Skeletal muscle hypert... OMIM:151660
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... ORPHA:71212
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormality of masseter muscle, Abnormal pituitary gland morpho... ORPHA:314621
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Hydrolethalus Syndrome 1
Stillbirth, Agenesis of the diaphragm, Adrenal gland dysgenesis OMIM:236680
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyr... ORPHA:508
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of parotid gland, Abnor... ORPHA:79078
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuff... ORPHA:227982
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Thymoma, Anterior pitu... ORPHA:227990
Tetraamelia Syndrome 1
Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:273395
Lipodystrophy, Congenital Generalized, Type 1
Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Generalized muscular appe... OMIM:608594
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter, Embryonal rhabdomyosarcoma OMIM:620189
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Bile duct proliferation, Neonatal death, Failure to th... OMIM:619534
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Lipodystrophy, Congenital Generalized, Type 2
Cystic angiomatosis of bone, Decreased serum leptin, Generalized muscular appearance from birth, ... OMIM:269700
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Doors Syndrome
Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism ORPHA:79500
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99413
Turner Syndrome
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:881
Mosaic Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99228
Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99226
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated circulating grow... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64

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 Serp1

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 Serp1.

No publications found that use IMPC mice or data for Serp1.

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
Serp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Serp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Serp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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