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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

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 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 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
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
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures ORPHA:293964
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Epilepsy, Nocturnal Frontal Lobe, 5
Depression, Personality disorder, Aggressive behavior, Cognitive impairment OMIM:615005
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus ORPHA:181393
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... ORPHA:324575
Basal Ganglia Calcification, Idiopathic, 6
Depression, Cognitive impairment, Memory impairment, Dementia OMIM:616413
Epilepsy, Progressive Myoclonic, 12
Depression, Anxiety, Attention deficit hyperactivity disorder, Mental deterioration OMIM:619191
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance OMIM:144600
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia ORPHA:364
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Dementia OMIM:615483
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Abn... ORPHA:276580
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Propionic Acidemia
Hypoglycemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level OMIM:201400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia OMIM:232400
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Lennox-Gastaut Syndrome
Mental deterioration, Personality disorder, Hyperactivity, Aggressive behavior ORPHA:2382
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Type I diabetes mellit... ORPHA:276575
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hypoglycemic seiz... ORPHA:276556
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia OMIM:613027
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... OMIM:619827
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia OMIM:617156
Landau-Kleffner Syndrome
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... ORPHA:98818
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Decreased circulating cortisol level OMIM:600955
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Decreased circulating cortisol level ORPHA:199296
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia ORPHA:369
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Mehmo Syndrome
Hypoglycemia OMIM:300148
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Increased circulati... ORPHA:79644
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Recurrent hypoglycemia, Impaired gluconeogenesis OMIM:212140
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia OMIM:307030
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:26792
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia OMIM:619048
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia ORPHA:156
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia OMIM:619386
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity OMIM:615924
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Juvenile Huntington Disease
Depression, Hyperactivity, Irritability, Dementia ORPHA:248111
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia ORPHA:79237
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus ORPHA:254516
Insulinoma
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level OMIM:618839
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Transient hyperlipidemia OMIM:255120
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Diabetes mellitus OMIM:616026
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Type II diabetes mellitus, Hypoinsulinemia ORPHA:453533
Timothy Syndrome
Hypoglycemia OMIM:601005
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia OMIM:617575
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Impaired glucose tolerance, Hypertriglyceridemia, Diabete... ORPHA:2088
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemic seizures OMIM:231530
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia ORPHA:2394
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia OMIM:256810
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance ORPHA:73272
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Cognitive impairment, Disinhibition, Aggressive beh... ORPHA:43
Rasmussen Subacute Encephalitis
Hyperactivity, Cognitive impairment, Memory impairment, Attention deficit hyperactivity disorder,... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia OMIM:245400
Cog8-Cdg
Hypoglycemia ORPHA:95428
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter OMIM:618718
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Diabetes mellitus ORPHA:391408
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia OMIM:619046
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia OMIM:212138
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia OMIM:210200
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:42
Classic Galactosemia
Hypoglycemia ORPHA:79239
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... ORPHA:71212
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia ORPHA:348
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Inappropriate laughter ORPHA:411515
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia OMIM:617049
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Glycogen Storage Disease Ia
Fasting hypoglycemia, Hyperlipidemia, Hypoglycemia, Xanthelasma OMIM:232200
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia OMIM:251000
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia OMIM:606407
Propionic Acidemia
Hypoglycemia OMIM:606054
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Mental deterioration, Anxiety, Low frustration tolerance, Motor deterioration, Agg... ORPHA:168491
D-Glyceric Aciduria
Hypoglycemia OMIM:220120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Fasting hypoglycemia, Recurrent... ORPHA:79240
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia OMIM:251880
Cln5 Disease
Mental deterioration, Anxiety, Hyperactivity, Aggressive behavior ORPHA:228360
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Bipolar affective disorder OMIM:601853
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia ORPHA:264580
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glycosuria OMIM:231680
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Progressive language deterioration, Self-mutilation, Mental deterioration, Low fru... ORPHA:163681
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Decreased circulating cortisol level ORPHA:90790
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia OMIM:201475
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Neonatal hypoglycemia OMIM:619055
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Diabetic ketoacidosis, Impaired glucose tolerance... ORPHA:769
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Xanthelasma OMIM:232220
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Type I diabetes mellitus, Decreased circulating cortisol level ORPHA:199299
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Increased circulating cortisol level OMIM:131100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Nonketotic hypoglycemia OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia OMIM:618005
Glycogen Storage Disease Ic
Hypoglycemia, Hyperlipidemia, Xanthelasma OMIM:232240
Isolated Complex I Deficiency
Hypoglycemia, Diabetes mellitus ORPHA:2609
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
Pituitary Apoplexy
Hypoglycemia, Increased circulating cortisol level ORPHA:95613
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Decreased circulating cortisol level ORPHA:361
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia OMIM:124000
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia OMIM:609015
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia OMIM:608779
Mirage Syndrome
Hypoglycemia OMIM:617053
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Increased circulating cortisol level ORPHA:786
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance OMIM:117550
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia ORPHA:445038
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia ORPHA:99901
Visceral Steatosis, Congenital
Hypoglycemia OMIM:228100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Cholera
Hypoglycemia ORPHA:173
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hyperlipidemia ORPHA:157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level ORPHA:26793
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypoglycemia, Hypertriglyceridemia, Neonatal hypoglycemia OMIM:619418
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia OMIM:614921
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia ORPHA:66634
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Recurrent hypoglycemia ORPHA:293978
Sheehan Syndrome
Hypoglycemia, Decreased circulating cortisol level ORPHA:91355
Leigh Syndrome
Hypoglycemia ORPHA:506
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypoglycemic seizures, Hypercholesterolemia, ... ORPHA:79259
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Hyperactivity, Impulsivity, Emotional lability OMIM:610217
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia ORPHA:746
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia OMIM:616271
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Decreased circulating cortisol level ORPHA:90791
Acute Adrenal Insufficiency
Hypoglycemia, Decreased circulating cortisol level ORPHA:95409
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hyperlipidemia ORPHA:228308
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Fasting hypoglycemia, Hyperaldo... ORPHA:508
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:3008
Addison Disease
Hypoglycemia, Type I diabetes mellitus, Decreased circulating cortisol level ORPHA:85138
Shigellosis
Hypoglycemia ORPHA:810
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia ORPHA:20
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance ORPHA:96182
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia OMIM:301066
Holoprosencephaly
Hypoglycemia, Diabetes mellitus ORPHA:2162
Alg12-Cdg
Recurrent hypoglycemia, Hypocholesterolemia ORPHA:79324
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia ORPHA:79282
Bannayan-Riley-Ruvalcaba syndrome
Hypoglycemia OMIM:153480
Menkes Disease
Hypoglycemia ORPHA:565
Hepatocellular Carcinoma
Hypoglycemia, Type II diabetes mellitus ORPHA:88673
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia ORPHA:17
Fructose Intolerance, Hereditary
Hypoglycemia, Glycosuria OMIM:229600
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Histiocytoid Cardiomyopathy
Hypoglycemia ORPHA:137675
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Glycosuria ORPHA:3337
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia OMIM:252010
Histidinemia
Hyperactivity ORPHA:2157
Tyrosinemia, Type I
Hypoglycemia OMIM:276700
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Decreased circulating cortisol level ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Decreased circulating cortisol level ORPHA:289548
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia ORPHA:226307
Choreoacanthocytosis
Bradyphrenia, Apathy, Head-banging, Self-injurious behavior, Irritability, Hyperactivity, Depress... ORPHA:2388
Simpson-Golabi-Behmel Syndrome
Hypoglycemia ORPHA:373
Deeah Syndrome
Neonatal hypoglycemia OMIM:619004
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia OMIM:613658
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Costello Syndrome
Hypoglycemia OMIM:218040
Beckwith-Wiedemann Syndrome
Hypoglycemia, Neonatal hypoglycemia ORPHA:116
Acute Liver Failure
Hypoglycemia ORPHA:90062
Marburg Hemorrhagic Fever
Hypoglycemia ORPHA:99826
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia OMIM:130650
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Decreased circulating cortisol level ORPHA:90794
Sotos Syndrome
Neonatal hypoglycemia ORPHA:821
Salt And Pepper Developmental Regression Syndrome
Irritability OMIM:609056

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.

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MGI Allele Allele Type Produced
St3gal5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
St3gal5tm210748(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
St3gal5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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