Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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:

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

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 (462 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
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	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
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	Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai...	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
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301008
Pancreas, Dorsal, Agenesis Of	Diabetes mellitus	OMIM:167755
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia	OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ...	ORPHA:293964
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia	OMIM:306000
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ...	ORPHA:263458
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Severe Primary Trimethylaminuria	Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety	ORPHA:468726
Intellectual Developmental Disorder, X-Linked 109	Impulsivity, Aggressive behavior, Hyperactivity	OMIM:309548
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia	OMIM:240900
Autism, Susceptibility To, X-Linked 4	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder	OMIM:300830
Glycogen Storage Disease Vi	Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia	OMIM:232700
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Cognitive impairment, Dementia	OMIM:618564
Wolfram-Like Syndrome, Autosomal Dominant	Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance	OMIM:614296
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	Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis	OMIM:613370
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Hyperinsulinism Due To Glucokinase Deficiency	Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes...	ORPHA:79299
Mental Retardation, Autosomal Dominant 45	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617600
Mental Retardation, Autosomal Dominant 52	Anxiety, Hyperactivity	OMIM:617796
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx...	ORPHA:412066
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,...	ORPHA:411593
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance	OMIM:125853
Mental Retardation, Autosomal Recessive 54	Hyperactivity	OMIM:617028
Schizophrenia 15	Hyperactivity	OMIM:613950
Epilepsy, Progressive Myoclonic, 12	Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic...	OMIM:619191
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Developmental And Epileptic Encephalopathy 56	Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait	OMIM:617665
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	OMIM:609968
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab...	OMIM:610947
Mental Retardation, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance	OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 11	Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613375
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia	OMIM:616113
Spinocerebellar Ataxia 14	Gait ataxia, Depression, Progressive cerebellar ataxia, Focal dystonia, Dysmetria, Memory impairm...	OMIM:605361
Mental Retardation, Autosomal Recessive 37	Aggressive behavior, Hyperactivity	OMIM:615493
Obsessive-Compulsive Disorder	Skin-picking, Anxiety, Depression	OMIM:164230
Epilepsy, Nocturnal Frontal Lobe, 5	Cognitive impairment, Personality disorder, Aggressive behavior, Depression	OMIM:615005
Immunodeficiency 8	Hyperactivity	OMIM:615401
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai...	ORPHA:401901
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Irritability, Hyperactivity	OMIM:616657
Myoclonus-Dystonia Syndrome	Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety	ORPHA:36899
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Aggressive behavior, Hyperactivity	ORPHA:356996
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes mellitus	ORPHA:181393
Creutzfeldt-Jakob Disease	Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment	OMIM:123400
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Basal Ganglia Calcification, Idiopathic, 6	Cognitive impairment, Memory impairment, Dementia, Depression	OMIM:616413
Gilles De La Tourette Syndrome	Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder	OMIM:137580
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Huntington Disease-Like 2	Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety	OMIM:606438
Parkinson Disease 6, Autosomal Recessive Early-Onset	Dystonia, Dementia, Depression, Bradykinesia, Anxiety	OMIM:605909
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe...	ORPHA:324575
Mpi-Cdg	Hypoglycemia	ORPHA:79319
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Dystonia 11, Myoclonic	Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety	OMIM:159900
Huntington Disease-Like 1	Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria	OMIM:603218
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia	ORPHA:35878
Developmental And Epileptic Encephalopathy 43	Ataxia, Hyperactivity	OMIM:617113
Hypertriglyceridemia 1	Hypertriglyceridemia, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Glucose intolerance	OMIM:144600
Chorea, Benign Hereditary	Gait disturbance, Anxiety	OMIM:118700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:364
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Smith-Magenis syndrome	Self-mutilation, Hyperactivity	DECIPHER:8
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	Dementia, Depression, Apathy, Anxiety, Cognitive impairment, Athetosis	OMIM:615483
Pandas	Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ...	ORPHA:66624
Dystonia 12	Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety	OMIM:128235
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista...	OMIM:262190
Juvenile Huntington Disease	Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,...	ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 25	Cognitive impairment, Dysmetria, Truncal ataxia, Ataxia	OMIM:617584
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Progressive cerebellar ataxia, Anxiety,...	OMIM:604326
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Mental Retardation, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ...	ORPHA:276580
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Cognitive Impairment With Or Without Cerebellar Ataxia	Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso...	OMIM:614306
Glycine Encephalopathy	Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity	OMIM:605899
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia, Glycosuria	ORPHA:2089
Propionic Acidemia	Hypoglycemia	ORPHA:35
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia	OMIM:610768
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Spinocerebellar Ataxia 29	Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Cognitive impairment, Broad-based gait, Nonpr...	OMIM:117360
Lennox-Gastaut Syndrome	Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration	ORPHA:2382
Childhood Disintegrative Disorder	Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior...	ORPHA:168782
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia	OMIM:617872
Acth Deficiency, Isolated	Fasting hypoglycemia, Decreased circulating cortisol level	OMIM:201400
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Impulsivity, Aggressive behavior, Hyperactivity	OMIM:604317
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity	OMIM:300271
Landau-Kleffner Syndrome	Memory impairment, Gait ataxia, Aggressive behavior, Depression, Emotional lability, Social and o...	ORPHA:98818
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hyp...	ORPHA:276575
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia	OMIM:232400
3-Methylglutaconic Aciduria Type 4	Hypoglycemia	ORPHA:67048
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypogly...	ORPHA:276556
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Encephalopathy, Progressive, With Or Without Lipodystrophy	Dystonia, Mental deterioration, Ataxia, Hyperactivity	OMIM:615924
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:202200
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Phenylketonuria	Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention...	OMIM:261600
Fraxe Intellectual Disability	Impulsivity, Aggressive behavior, Hyperactivity	ORPHA:100973
Mental Retardation, Autosomal Dominant 43	Impulsivity, Anxiety, Hyperactivity	OMIM:616977
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Estrogen Resistance	Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia	OMIM:615363
Hyperprolinemia, Type I	Aggressive behavior, Ataxia, Hyperactivity	OMIM:239500
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Reactive hypoglycemia	OMIM:600955
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:199296
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia	OMIM:617156
Early-Onset Schizophrenia	Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function...	ORPHA:96369
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Dystonia 26, Myoclonic	Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety	OMIM:616398
Hyperlysinemia, Type I	Cognitive impairment, Hyperactivity	OMIM:238700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an...	ORPHA:3077
Sotos Syndrome 3	Hyperactivity	OMIM:617169
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Microcephaly, Seizures, And Developmental Delay	Ataxia, Hyperactivity	OMIM:613402
Mannosidosis, Beta A, Lysosomal	Aggressive behavior, Hyperactivity	OMIM:248510
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia	OMIM:307030
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Insulin-Like Growth Factor I Deficiency	Hyperactivity	OMIM:608747
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:369
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:26792
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617182
Carnitine Deficiency, Systemic Primary	Recurrent hypoglycemia, Impaired gluconeogenesis, Hypoglycemia	OMIM:212140
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait disturbance, Dysmetria, Hyperactivity	OMIM:618090
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia	OMIM:261680
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus	OMIM:606176
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Insulin resistance	OMIM:617885
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia	OMIM:614736
Intellectual Developmental Disorder, X-Linked 30	Anxiety, Aggressive behavior, Hyperactivity	OMIM:300558
Chromosome 3Q29 Deletion Syndrome	Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity	OMIM:609425
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Perry Syndrome	Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykinesia, Anx...	OMIM:168605
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Hemochromatosis, Type 4	Impaired glucose tolerance, Glucose intolerance	OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia	OMIM:619048
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia	ORPHA:289504
Intellectual Developmental Disorder, X-Linked 104	Aggressive behavior, Ataxia, Hyperactivity	OMIM:300983
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia	OMIM:617049
Coffin-Siris Syndrome 8	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:618362
Mody	Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in...	ORPHA:552
Xq25 Microduplication Syndrome	Anxiety, Hyperactivity	ORPHA:521258
Xq25 Duplication Syndrome	Anxiety, Hyperactivity	OMIM:300979
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Mental Retardation, Autosomal Recessive 39	Aggressive behavior, Hyperactivity	OMIM:615541
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Hypertriglyceridemia	OMIM:613027
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:615160
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Mental Retardation, X-Linked 77	Hyperactivity	OMIM:300454
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia	OMIM:619386
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity	OMIM:301013
Cln5 Disease	Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait...	ORPHA:228360
Mental Retardation, Autosomal Dominant 35	Hypoglycemia	OMIM:616355
Aminoacylase 1 Deficiency	Hyperactivity	OMIM:609924
Insulinoma	Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonketotic hypoglycemi...	ORPHA:97279
Galactokinase Deficiency	Hypercholesterolemia, Hyperinsulinemia, Hypoglycemia	ORPHA:79237
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Dystonia, Aggressive behavior, Ataxia, Hyperactivity	OMIM:612716
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Succinic Semialdehyde Dehydrogenase Deficiency	Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity	OMIM:271980
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia	OMIM:618329
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia	OMIM:618839
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait	ORPHA:411515
Guanidinoacetate Methyltransferase Deficiency	Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis	ORPHA:382
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Transient hyperlipidemia	OMIM:255120
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity	ORPHA:85288
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hypoglycemia	ORPHA:5
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Rasmussen Subacute Encephalitis	Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai...	ORPHA:1929
X-Linked Adrenoleukodystrophy	Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy...	ORPHA:43
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Hyperinsulinism Due To Hnf4A Deficiency	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp...	ORPHA:263455
Female Restricted Epilepsy With Intellectual Disability	Anxiety, Impulsivity, Aggressive behavior, Hyperactivity	ORPHA:101039
Autosomal Recessive Non-Syndromic Intellectual Disability	Hyperactivity, Dystonia, Impulsivity, Depression	ORPHA:88616
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Glycosuria, Hypertr...	ORPHA:2088
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia	ORPHA:2394
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Timothy Syndrome	Hypoglycemia	OMIM:601005
Mental Retardation, Autosomal Recessive 38	Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity	OMIM:615516
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoglycemia	OMIM:617575
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypoglycemia, Type II diabetes mellitus	ORPHA:453533
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Gm2 Gangliosidosis, Ab Variant	Dystonia, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impa...	ORPHA:309246
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity	OMIM:618718
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive...	ORPHA:485350
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hypoglycemia	OMIM:256810
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Aggressive behavior, Hyperactivity	OMIM:618342
Gand Syndrome	Inappropriate laughter, Hyperactivity	OMIM:615074
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia	OMIM:600649
Maple Syrup Urine Disease	Hypoglycemia	OMIM:248600
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia	OMIM:210200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia	OMIM:245400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Insulin resistance	ORPHA:73272
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Hyperactivity	OMIM:274270
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity	ORPHA:500180
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Late Infantile Neuronal Ceroid Lipofuscinosis	Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler...	ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Ck Syndrome	Irritability, Aggressive behavior, Hyperactivity	ORPHA:251383
Insulin-Resistance Syndrome Type B	Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli...	ORPHA:2298
Mental Retardation, Autosomal Recessive 61	Aggressive behavior, Hyperactivity	OMIM:617773
Clark-Baraitser Syndrome	Aggressive behavior, Hyperactivity	OMIM:617752
Infantile Neuroaxonal Dystrophy	Dystonia, Gait disturbance, Psychomotor deterioration, Ataxia, Emotional lability, Unsteady gait,...	ORPHA:35069
Solitary Fibrous Tumor/Hemangiopericytoma	Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia	ORPHA:2126
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Cog8-Cdg	Hypoglycemia	ORPHA:95428
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Aggressive behavior, Broad-based gait, Hyperactivity	ORPHA:457260
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Pitt-Hopkins-Like Syndrome 1	Progressive language deterioration, Aggressive behavior, Ataxia, Hyperactivity	OMIM:610042
Ck Syndrome	Irritability, Aggressive behavior, Hyperactivity	OMIM:300831
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor	OMIM:617865
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia	OMIM:619046
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Hypoglycemia	OMIM:608624
Neurodegeneration With Brain Iron Accumulation 2B	Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr...	OMIM:610217
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc...	ORPHA:71212
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity	OMIM:300434
Donohue Syndrome	Fasting hypoglycemia, Hyperglycemia, Postprandial hyperglycemia, Hyperinsulinemia	OMIM:246200
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hyperactivity, Cogniti...	ORPHA:363400
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia	OMIM:606407
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Neonatal hypoglycemia, Hypoglycemia	ORPHA:348
Classic Galactosemia	Hypoglycemia	ORPHA:79239
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Aggressive behavior, Hyperactivity	OMIM:615824
Hsd10 Disease, Infantile Type	Hypoglycemia	ORPHA:391428
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hypoglycemia	OMIM:212138
Gomez-Lopez-Hernandez Syndrome	Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Cognitive...	OMIM:601853
Glutaric Acidemia I	Hypoglycemia	OMIM:231670
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity	OMIM:275000
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Hypoglycemia, Insulin resistance	ORPHA:230
Intellectual Developmental Disorder, X-Linked 21	Impulsivity, Hyperactivity	OMIM:300143
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Optic Atrophy 11	Dysmetria, Ataxia, Hyperactivity	OMIM:617302
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Aggressive behavior, Hyperactivity	OMIM:615286
Propionic Acidemia	Hypoglycemia	OMIM:606054
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia	ORPHA:264580
Mucopolysaccharidosis, Type Iiib	Progressive neurologic deterioration, Aggressive behavior, Hyperactivity	OMIM:252920
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glycosuria	OMIM:231680
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia	OMIM:614921
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hypoglycemia	OMIM:232200
Hypomagnesemia, Seizures, And Mental Retardation 2	Self-biting, Hyperactivity	OMIM:618314
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia	OMIM:210210
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Mental Retardation, Autosomal Dominant 7	Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor	OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Aggressive behavior, Broad-based gait, Hyperactivity	OMIM:300958
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia	OMIM:251880
Symptomatic Form Of Fragile X Syndrome In Female Carrier	Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A...	ORPHA:449291
Adenylosuccinase Deficiency	Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp...	OMIM:103050
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hypoglycemia	OMIM:232220
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Aggressive behavior, Hyperactivity	ORPHA:369939
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,...	ORPHA:769
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:134
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Hypoglycemia	ORPHA:90790
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Hypoglycemia	OMIM:619055
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
X-Linked Creatine Transporter Deficiency	Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis	ORPHA:52503
2Q23.1 Microdeletion Syndrome	Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity	ORPHA:228402
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Type I diabetes mellitus, Hypoglycemia	ORPHA:199299
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia	OMIM:201475
Myoclonic-Astatic Epilepsy	Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac...	ORPHA:1942
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia	OMIM:131100
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings	OMIM:300354
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Aggressive behavior, Hyperactivity	ORPHA:391307
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hypoglycemia	OMIM:232240
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:26791
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:618504
Isolated Complex I Deficiency	Diabetes mellitus, Hypoglycemia	ORPHA:2609
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:600430
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemic seizures, Hypoglycemia	ORPHA:480864
Mental Retardation, Autosomal Recessive 13	Hyperactivity	OMIM:613192
Pituitary Apoplexy	Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Familial Glucocorticoid Deficiency	Hypoglycemic seizures, Ketotic hypoglycemia, Decreased circulating cortisol level	ORPHA:361
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Silver-Russell Syndrome	Recurrent hypoglycemia, Insulin resistance	ORPHA:813
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	OMIM:609015
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia	OMIM:124000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:370
Generalized Glucocorticoid Resistance Syndrome	Increased circulating cortisol level, Hypoglycemia	ORPHA:786
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia	OMIM:608779
Mirage Syndrome	Hypoglycemia	OMIM:617053
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Self-biting	ORPHA:3306
Visceral Steatosis, Congenital	Hypoglycemia	OMIM:228100
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia	ORPHA:565624
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Anxiety, Aggressive behavior, Ataxia, Hyperactivity	OMIM:618430
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Neurodegeneration With Brain Iron Accumulation 1	Dystonia, Akinesia, Depression, Dementia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, ...	OMIM:234200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia	OMIM:616878
X-Linked Cerebral Adrenoleukodystrophy	Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Memory...	ORPHA:139396
Cri-Du-Chat Syndrome	Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h...	OMIM:123450
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia, Hyperlipidemia	ORPHA:157
Chromosome 15Q25 Deletion Syndrome	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:614294
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia	ORPHA:99901
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia	ORPHA:445038
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Recurrent hypoglycemia	ORPHA:293978
Sheehan Syndrome	Decreased circulating cortisol level, Hypoglycemia	ORPHA:91355
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait	ORPHA:98794
16P12.1P12.3 Triplication Syndrome	Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder	ORPHA:485405
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	ORPHA:26793
Cholera	Hypoglycemia	ORPHA:173
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia	ORPHA:66634
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Choreoacanthocytosis	Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi...	ORPHA:2388
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:90791
Leigh Syndrome	Hypoglycemia	ORPHA:506
Citrullinemia Type Ii	Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory impairment	ORPHA:247585
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia	OMIM:608836
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyp...	ORPHA:79259
Glass Syndrome	Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor	OMIM:612313
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Hypoglycemia	ORPHA:95409
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Leprechaunism	Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos...	ORPHA:508
Addison Disease	Decreased circulating cortisol level, Type I diabetes mellitus, Hypoglycemia	ORPHA:85138
13Q12.3 Microdeletion Syndrome	Self-mutilation, Hyperactivity	ORPHA:412035
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia, Hyperlipidemia	ORPHA:228308
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability	OMIM:309520
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypoglycemia	OMIM:252010
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity	ORPHA:363686
Angelman Syndrome	Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ...	ORPHA:72
Shigellosis	Hypoglycemia	ORPHA:810
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Mucopolysaccharidosis, Type Iiic	Motor deterioration, Hyperactivity	OMIM:252930
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
47,Xyy Syndrome	Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity	ORPHA:8
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia	ORPHA:20
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Insensitivity To Pain, Congenital, With Anhidrosis	Self-mutilation, Hyperactivity, Emotional lability	OMIM:256800
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Angelman Syndrome	Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity	OMIM:105830
Holoprosencephaly	Diabetes mellitus, Hypoglycemia	ORPHA:2162
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Fasting hypoglycemia, Insulin resistance	ORPHA:96182
Tyrosinemia, Type I	Hypoglycemia	OMIM:276700
Bannayan-Riley-Ruvalcaba syndrome	Hypoglycemia	OMIM:153480
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity	OMIM:619239
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia	ORPHA:79282
Fructose Intolerance, Hereditary	Hypoglycemia, Glycosuria	OMIM:229600
Histidinemia	Hyperactivity	ORPHA:2157
Menkes Disease	Hypoglycemia	ORPHA:565
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Glycosuria	ORPHA:3337
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia	ORPHA:17
Histiocytoid Cardiomyopathy	Hypoglycemia	ORPHA:137675
Hepatocellular Carcinoma	Hypoglycemia, Type II diabetes mellitus	ORPHA:88673
Joubert Syndrome 1	Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity	OMIM:213300
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:168558
Argininemia	Spastic gait, Irritability, Hyperactivity	OMIM:207800
Wiedemann-Steiner Syndrome	Aggressive behavior, Psychomotor deterioration, Low frustration tolerance, Anxiety, Hyperactivity	ORPHA:319182
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:289548
Hyperthyroidism, Nonautoimmune	Hyperactivity	OMIM:609152
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia	ORPHA:226307
Cerebellar Ataxia, Nonprogressive, With Mental Retardation	Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity	OMIM:614756
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Disinhibition, Aggressive behavior, Dementia, Hypersexualit...	ORPHA:581
Deeah Syndrome	Neonatal hypoglycemia	OMIM:619004
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity	OMIM:609727
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Hyperactivity	ORPHA:760
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hypoglycemia	ORPHA:116
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Costello Syndrome	Hypoglycemia	OMIM:218040
Acute Liver Failure	Hypoglycemia	ORPHA:90062
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Tuberous Sclerosis Complex	Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, Hyperactivity, At...	ORPHA:805
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Aggressive behavior, Impulsivity, Hyperactivity, Cognitive ...	ORPHA:580
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Soci...	ORPHA:353281
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Familial Gestational Hyperthyroidism	Hyperactivity	ORPHA:99819
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:90794
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity	ORPHA:424
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Irritability, Hyperactivity	ORPHA:447997
Hereditary Sensory And Autonomic Neuropathy Type 4	Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ...	ORPHA:642
Salt And Pepper Developmental Regression Syndrome	Irritability	OMIM:609056
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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
St3gal5^{tm210748(L1L2_Bact_P)}		Targeting vectors
St3gal5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us