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Gene: St3gal5 MGI:1339963

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Synonyms:

GM3 synthase, Siat9, [a]2, 3S-T, ST3Gal V, mST3Gal V, GM3-specific sialytransferase

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 St3gal5 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.

Human diseases associated with St3gal5 (1 diseases)
Human diseases predicted to be associated with St3gal5 (385 diseases)

The table below shows human diseases associated to St3gal5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Salt And Pepper Developmental Regression Syndrome		Irritability	OMIM:609056

The table below shows human diseases predicted to be associated to St3gal5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Familial Alzheimer-Like Prion Disease	Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype...	ORPHA:280397
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Schizophrenia 15	Hyperactivity	OMIM:613950
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures	OMIM:620211
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia	OMIM:145750
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:364
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia	ORPHA:171706
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia	OMIM:306000
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:147630
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Diarrhea 13	Recurrent hypoglycemia	OMIM:620357
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Propionic Acidemia	Hypoglycemia	ORPHA:35
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp...	ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi...	ORPHA:276580
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia	OMIM:201400
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia	OMIM:232400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
3-Methylglutaconic Aciduria Type 4	Hypoglycemia	ORPHA:67048
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ...	ORPHA:276575
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Social and occ...	ORPHA:98818
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis...	OMIM:261600
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Aggressive behavior	ORPHA:2382
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:369
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,...	ORPHA:552
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:26792
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia	OMIM:617872
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Hypoglycemic seizures	ORPHA:199296
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hyperactivity	OMIM:615924
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Blue Diaper Syndrome	Recurrent hypoglycemia, Increased proinsulin:insulin ratio	ORPHA:94086
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia	ORPHA:289504
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:202200
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:615160
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Neonatal hypoglycemia, Recur...	ORPHA:79644
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia	OMIM:614736
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia	OMIM:619386
Galactokinase Deficiency	Hypercholesterolemia, Hyperinsulinemia, Hypoglycemia	ORPHA:79237
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur...	ORPHA:97279
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Juvenile Huntington Disease	Irritability, Hyperactivity, Dementia, Depression	ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia	OMIM:618835
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia	OMIM:618839
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Polyphagia, Inappropriate laughter	ORPHA:411515
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia	ORPHA:2394
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia	OMIM:614702
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Pituitary Hormone Deficiency, Combined, 6	Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Fasting hypoglycemia, Glycosuria, Hyperinsulinemic hypoglycemia, Neonatal hypog...	ORPHA:263455
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia	OMIM:600649
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Fanconi-Bickel Syndrome	Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Fasting hypoglycemia, Glycos...	ORPHA:2088
Maple Syrup Urine Disease	Hypoglycemia	OMIM:248600
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Hypoketotic hypoglycemia	OMIM:255120
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia	OMIM:245400
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir...	ORPHA:449291
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia	OMIM:617575
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia	OMIM:212140
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia	OMIM:210200
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem...	ORPHA:2298
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia	OMIM:619046
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac...	OMIM:610042
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia	OMIM:617049
Classic Galactosemia	Hypoglycemia	ORPHA:79239
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp...	ORPHA:71212
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi...	ORPHA:43
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia, Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus	OMIM:615812
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Timothy Syndrome	Hypoglycemia	OMIM:601005
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Hsd10 Disease, Infantile Type	Hypoglycemia	ORPHA:391428
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Progressive language deterioration, Skin-picking, Abnormal te...	ORPHA:163681
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hypoglycemia, Fasting hypoglycemia	OMIM:232200
Propionic Acidemia	Hypoglycemia	OMIM:606054
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia	OMIM:606407
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia	OMIM:251000
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Glutaric Acidemia I	Hypoglycemia	OMIM:231670
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Ketotic hypoglycemia, Recurrent hypoglycemia, Fasting hypoglycemia, Hyperch...	ORPHA:79240
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
D-Glyceric Aciduria	Hypoglycemia	OMIM:220120
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	ORPHA:264580
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glycosuria	OMIM:231680
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Insulin-Like Growth Factor I Deficiency	Short attention span, Hyperactivity	OMIM:608747
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Irritabili...	ORPHA:247585
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia	OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:134
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia	OMIM:210210
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Hypoglycemia	ORPHA:90790
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Decreased circulating cortisol level, Hypoglycemia	ORPHA:199299
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia	OMIM:607143
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hypoglycemia	OMIM:232220
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Isolated Complex I Deficiency	Diabetes mellitus, Hypoglycemia	ORPHA:2609
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Hypoglycemic seizures	ORPHA:480864
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:26791
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia	OMIM:131100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia	OMIM:608836
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Dysphagia, Mental deterioration, Emotional labi...	OMIM:610217
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Pituitary Apoplexy	Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia	OMIM:618329
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia	OMIM:617093
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia	OMIM:609015
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia	ORPHA:565624
Mirage Syndrome	Hypoglycemia	OMIM:617053
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia	OMIM:251880
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Sotos Syndrome	Glucose intolerance, Neonatal hypoglycemia	OMIM:117550
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia	OMIM:616878
Histidinemia	Hyperactivity	ORPHA:2157
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia	ORPHA:445038
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia	ORPHA:99901
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hypoglycemia	OMIM:232240
Generalized Glucocorticoid Resistance Syndrome	Increased circulating cortisol level, Hypoglycemia	ORPHA:786
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	ORPHA:26793
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia	OMIM:307030
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Hypoketotic hypoglycemia	ORPHA:157
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia	OMIM:608779
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia	OMIM:619418
Cholera	Hypoglycemia	ORPHA:173
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia	OMIM:614921
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria	OMIM:227810
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia	ORPHA:66634
Sheehan Syndrome	Decreased circulating cortisol level, Hypoglycemia	ORPHA:91355
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:90791
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperchol...	ORPHA:79259
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia	OMIM:616271
Leigh Syndrome	Hypoglycemia	ORPHA:506
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Hypoglycemia	ORPHA:95409
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperlipidemia, Hypoketotic hypoglycemia	ORPHA:228308
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia	OMIM:617156
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent hypoglycemia, Hypoglycemia	OMIM:256810
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Leprechaunism	Insulin resistance, Hyperinsulinemia, Hyperaldosteronism, Recurrent infantile hypoglycemia, Fasti...	ORPHA:508
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia	ORPHA:20
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Shigellosis	Hypoglycemia	ORPHA:810
Perlman Syndrome	Hypoglycemia	OMIM:267000
Addison Disease	Type I diabetes mellitus, Decreased circulating cortisol level, Hypoglycemia	ORPHA:85138
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Alg12-Cdg	Recurrent hypoglycemia, Hypocholesterolemia	ORPHA:79324
Holoprosencephaly	Diabetes mellitus, Hypoglycemia	ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia	ORPHA:17
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia	OMIM:124000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Recurrent hypoglycemia	ORPHA:293978
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia	ORPHA:79282
Histiocytoid Cardiomyopathy	Hypoglycemia	ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypoglycemia	OMIM:252010
Tyrosinemia, Type I	Hypoglycemia	OMIM:276700
Fructose Intolerance, Hereditary	Hypoglycemia, Glycosuria	OMIM:229600
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Glycosuria	ORPHA:3337
Menkes Disease	Hypoglycemia	ORPHA:565
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:289548
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia	ORPHA:226307
Neurooculorenal Syndrome	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:620305
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoglycemia	OMIM:613658
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Deeah Syndrome	Neonatal hypoglycemia	OMIM:619004
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia	OMIM:617248
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Costello Syndrome	Hypoglycemia	OMIM:218040
Beckwith-Wiedemann Syndrome	Hypoglycemia, Neonatal hypoglycemia	ORPHA:116
Marburg Hemorrhagic Fever	Hypoglycemia	ORPHA:99826
Acute Liver Failure	Hypoglycemia	ORPHA:90062
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Elevated serum 11-deoxycortisol, Hypoglycemia	OMIM:201750
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:90794
Salt And Pepper Developmental Regression Syndrome	Irritability	OMIM:609056
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Sotos Syndrome	Neonatal hypoglycemia	ORPHA:821

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 St3gal5

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 St3gal5.

No publications found that use IMPC mice or data for St3gal5.

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
St3gal5^{tm210748(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
St3gal5^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
St3gal5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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