Gene Summary

Name:
synaptotagmin-like 4
Synonyms:
granuphilin-b,  granuphilin-a,  Slp4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased startle reflex Sytl4em1(IMPC)Hmgu HOM   Early adult 3.12×10-05
improved glucose tolerance Sytl4em1(IMPC)Hmgu HEM   Early adult 5.57×10-06
improved glucose tolerance Sytl4em1(IMPC)Hmgu HOM   Early adult 1.26×10-11

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

Human diseases caused by Sytl4 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 Sytl4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperprolactinemia
Increased circulating prolactin concentration OMIM:615555
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimuation test OMIM:612781
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Hypoglycemia, Decreased... ORPHA:314811
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimuation test OMIM:173100
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropr... ORPHA:100083
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Anterior hypopituitarism, Decreased response to growth hormone stimuation test OMIM:208080
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Increased circ... ORPHA:91354
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Ovarian Dysgenesis 1
Increased circulating gonadotropin level OMIM:233300
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism OMIM:613743
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content, Failure to thrive in infancy OMIM:232700
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Adrenal insufficiency, Adrenocorticotropic hormone d... OMIM:609734
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Mccune-Albright Syndrome
Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:174800
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Increased circulating gonadotropin level ORPHA:399805
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hyperpituitaris... ORPHA:91351
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Failure to thrive ORPHA:67046
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stimuation test OMIM:616784
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... OMIM:610755
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Enlarged pituitary gland... ORPHA:91350
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia OMIM:306000
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hypogonadism-Cataract Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Male hypogonadism OMIM:240950
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type II diabetes mellitus, ... ORPHA:181393
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Delayed puberty, ... ORPHA:95619
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Anterior hypopituitarism, Megalencephaly, Abnormal corpus c... ORPHA:280195
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71526
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Failure to thrive OMIM:617156
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypothyroidism, ... OMIM:612885
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Increased circulating gonadotropin level ORPHA:399808
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Precocious puberty OMIM:614736
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Immunodeficiency 54
Adrenocorticotropic hormone excess, Adrenal insufficiency, Microcephaly OMIM:609981
Mody
Abnormal oral glucose tolerance, Overweight, Exocrine pancreatic insufficiency, Hyperinsulinemic ... ORPHA:552
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Delay... OMIM:614963
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Premature thelarche, Isosexual ... ORPHA:759
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Central adr... ORPHA:54595
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pellucidum, Abs... ORPHA:95494
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Hypoglycemia, Failure to thrive OMIM:617049
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Hypoplasia... OMIM:619203
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Diab... OMIM:615849
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Hypoglycemia, De... ORPHA:95496
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Delayed pubert... ORPHA:369
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hypothalamic gonadotropin-releasing ... ORPHA:2235
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis OMIM:255900
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Ppoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased antimullerian hormone... OMIM:273250
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Gonadotropin deficiency OMIM:614837
Premature Ovarian Failure 6
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... OMIM:612310
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Grfoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Type I diabetes mellitus, Small for gestational age, Failure to thrive, Diab... OMIM:557000
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine level in liver, Hypoglycemia, He... OMIM:212140
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a... ORPHA:199296
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas... OMIM:160980
Somatostatinoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97283
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Bilateral breast hyp... ORPHA:52901
Rhyns Syndrome
Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimuati... OMIM:602152
Perrault Syndrome 1
Increased circulating gonadotropin level OMIM:233400
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland OMIM:612702
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Small for gestation... ORPHA:79237
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Abnormality of the testis size, Abno... ORPHA:261534
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcephaly, Hypopituitarism, Periventricular cysts, Hypothyroidism OMIM:619013
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Anterior hypopituitarism ORPHA:2863
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:168558
Prolactinoma
Abnormality of the pituitary gland, Male hypogonadism, Elevated circulating growth hormone concen... ORPHA:2965
Triple A Syndrome
Adrenal insufficiency, Microcephaly, Anterior hypopituitarism ORPHA:869
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Failure to thrive ORPHA:5
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Increased circulating cortisol l... ORPHA:249
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Hyperglycemia, Diabetes mellitus OMIM:609069
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Breast hypoplasia, Decre... ORPHA:91355
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Poems Syndrome
Primary adrenal insufficiency, Hypothyroidism, Increased circulating prolactin concentration, Hyp... ORPHA:2905
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism OMIM:603671
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperintensity of cerebral white matter on MRI, Hyperthyroidism, Increased circulating prolactin ... ORPHA:502423
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Hyperthyroidism OMIM:617675
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly OMIM:261680
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Abnormality of the testis size, Abno... ORPHA:99330
Frasier Syndrome
Hypergonadotropic hypogonadism, Decreased serum estradiol, Increased circulating gonadotropin lev... ORPHA:347
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Decreased serum testos... ORPHA:168563
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:210200
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Delayed puberty, Decreased serum estradio... ORPHA:243
Adrenomyeloneuropathy
Adrenocortical abnormality, Primary adrenal insufficiency, Cerebral dysmyelination, Adrenal insuf... ORPHA:139399
Ichthyosis And Male Hypogonadism
Hypogonadotropic hypogonadism, Male hypogonadism, Gonadotropin deficiency OMIM:308200
Somatomammotropinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:314769
Solitary Median Maxillary Central Incisor
Microcephaly, Anterior hypopituitarism, Decreased response to growth hormone stimuation test OMIM:147250
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Diabetes mellitus OMIM:184850
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Premature adrenarche, Central hypothyroidism, Decreased response to growth hormone ... ORPHA:293987
Perrault Syndrome 4
Premature ovarian insufficiency, Decreased serum estradiol, Increased circulating gonadotropin le... OMIM:615300
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypoplasia of the corpus callosum, Hypothyroidism, Cerebral atrophy, Hippocam... OMIM:618922
Carney Complex
Pituitary growth hormone cell adenoma, Ovarian cyst, Increased urinary cortisol level, Elevated c... ORPHA:1359
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Macroorchidism, Hypog... ORPHA:90790
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Hypoplasia of the olfactory bulb,... ORPHA:1827
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Ovarian neoplasm, Primary hypercortisolism, Increased serum serotonin, Adre... ORPHA:100079
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Gonadotropin deficiency, Elevated circulating thyroid-stimulating hor... OMIM:610978
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Breast hypoplasia... ORPHA:2232
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... ORPHA:325124
Congenital Hypothyroidism
Goiter, Hypothyroidism, Abnormality of the thyroid gland, Hypogonadism, Thyroid dysgenesis, Anter... ORPHA:442
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Macroorchidism, Increased serum testost... ORPHA:8
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Increase... ORPHA:97287
Frontorhiny
Diabetes insipidus, Lipoma of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Hypopit... ORPHA:391474
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism ORPHA:90065
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Increased circulating gonadotropi... ORPHA:251510
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Van Esch-O'Driscoll Syndrome
Microcephaly, Increased circulating gonadotropin level, Cerebral atrophy OMIM:301030
Kallmann Syndrome
Cryptorchidism, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Delaye... ORPHA:478
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Tyrosinemia, Type I
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Failure to thrive, Splenomegaly,... OMIM:276700
Dominant Beta-Thalassemia
Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed puberty, Diabetes mellitus, Hypop... ORPHA:231226
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Microform Holoprosencephaly
Panhypopituitarism, Maternal diabetes, Hypothyroidism, Microcephaly, Agenesis of corpus callosum ORPHA:280200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Cryptorchidism, Abnormality of the anterior pituitary, Absent septum pellucidum, Hypoplasia of th... ORPHA:438213
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Beta-Thalassemia Major
Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed puberty, Diabetes mellitus, Hypop... ORPHA:231214
Duplication Of The Pituitary Gland
Microcephaly, Abnormality of the pituitary gland, Agenesis of corpus callosum, Abnormal hypothala... ORPHA:314621
Holoprosencephaly 9
Cryptorchidism, Panhypopituitarism, Anterior pituitary agenesis, Decreased response to growth hor... OMIM:610829
Isolated Biliary Atresia
Hypothyroidism, Bile duct proliferation, Hypopituitarism, Atretic gallbladder ORPHA:30391
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:110100
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Anterior hypopitu... ORPHA:1435
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Increased serum testosterone level, Increased serum estradiol, Hyperthyroidism, P... ORPHA:3455
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Hypothalamic hamartoma, Adrenal hypoplasia, Decreased circula... OMIM:146510
Deeah Syndrome
Cryptorchidism, Panhypopituitarism, Hypohidrosis, Exocrine pancreatic insufficiency, Decreased ci... OMIM:619004
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Elevated circulating growth hormone concentration, Insulinoma, Glucagonoma,... ORPHA:100076
Acromegaly
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:963
Hartsfield Syndrome
Cryptorchidism, Diabetes insipidus, Microcephaly, Agenesis of corpus callosum, Gonadotropin defic... OMIM:615465
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Hypothalamic hamartoma, Adrenal hypoplasia, Primary adrenal i... ORPHA:672
Holoprosencephaly
Cryptorchidism, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Diabetes insipidus... ORPHA:2162
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Eec Syndrome
Hypohidrosis, Hypoplasia of the thymus, Xerostomia, Anterior hypopituitarism, Decreased response ... ORPHA:1896
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hypopituitarism, Pancreatic hypoplasia, Diabetes mellitus, Dec... ORPHA:811
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Sandhoff Disease
Exaggerated startle response OMIM:268800
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Increased circulating gonadotropin level, Hypothyroidism, Bilateral cryptorchidis... ORPHA:1772
Tay-Sachs Disease
Tremor, Exaggerated startle response ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93924
Pmm2-Cdg
Elevated circulating growth hormone concentration, Aplasia of the ovary, Hyperinsulinemia, Elevat... ORPHA:79318
Turner Syndrome
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, High urinar... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, High urinar... ORPHA:99228
Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, High urinar... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, High urinar... ORPHA:99413
Charge Syndrome
Cryptorchidism, Delayed puberty, Hypogonadotropic hypogonadism, Microcephaly, Anterior hypopituit... ORPHA:138
Microphthalmia, Syndromic 6
Cryptorchidism, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the... OMIM:607932
Charge Syndrome
Cryptorchidism, Arrhinencephaly, Hypothyroidism, Aplasia/Hypoplasia of the thymus, Decreased resp... OMIM:214800
Peters Plus Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Congenital ... ORPHA:709

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 Sytl4

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 Sytl4.

No publications found that use IMPC mice or data for Sytl4.

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MGI Allele Allele Type Produced
Sytl4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sytl4em1(IMPC)Hmgu Exon Deletion Mice

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