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Gene: Acss1 MGI:1915988

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

acyl-CoA synthetase short-chain family member 1

Synonyms:

1110032O15Rik, Acas2, Acas2l, AceCS2

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 Acss1 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 Acss1 (0 diseases)
Human diseases predicted to be associated with Acss1 (347 diseases)

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

The table below shows human diseases predicted to be associated to Acss1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we...	ORPHA:314811
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ...	ORPHA:314802
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, H...	OMIM:232700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati...	ORPHA:171706
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R...	OMIM:262400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo...	OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d...	ORPHA:324575
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Short stature, Hypoglycemia	ORPHA:366
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia...	ORPHA:276580
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Decreased b...	ORPHA:231140
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A...	OMIM:300148
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem...	ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ...	ORPHA:254516
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Combined Oxidative Phosphorylation Deficiency 34	Fever, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hor...	OMIM:617872
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardati...	ORPHA:73272
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia...	OMIM:262190
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Decreased serum leptin, Obesity	OMIM:614962
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi...	ORPHA:35878
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Short stature, Hypoglycemia, Hyperlipidemia, Growth delay, Delayed puberty, Failure to thrive	ORPHA:369
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta...	ORPHA:453533
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Intrauterine growth retardation, Hypoglycemia	ORPHA:231147
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Fever, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Recurrent fever	OMIM:201910
Combined Oxidative Phosphorylation Deficiency 47	Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Dysphagia	OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Small for gestational age, Short stature, Hypoglycemia	ORPHA:231137
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc...	OMIM:613986
2P21 Microdeletion Syndrome	Growth delay, Failure to thrive, Hypogonadism, Hypoglycemia	ORPHA:163693
Glycogen Storage Disease Iii	Hyperlipidemia, Short stature, Hypoglycemia	OMIM:232400
Laron Syndrome	Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed...	ORPHA:633
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia	OMIM:613027
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Hsd10 Mitochondrial Disease	Restlessness, Agitation, Hypoglycemia, Aggressive behavior	OMIM:300438
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni...	OMIM:614736
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Hypoglycemia, Postna...	OMIM:616113
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Failure to thrive, Ketotic hypoglycemia	ORPHA:26792
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hypoglycemia	ORPHA:364
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Fail...	ORPHA:2089
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Intrauterine growth retardation, Failure to thrive, Hypoglycemia	OMIM:619048
Riboflavin Deficiency	Hypoglycemia, Hypothermia	OMIM:615026
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Hypogonadotropic hypogonadism, Short stature, Hypoglycemia	ORPHA:48431
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ...	OMIM:606407
Glycogen Storage Disease Ixa1	Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia	OMIM:306000
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Hereditary Central Diabetes Insipidus	Fever, Weight loss, Growth delay, Polydipsia, Diabetes insipidus	ORPHA:30925
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Hypothermia, Growth delay, Intrauterine growth retardation, Failure to thrive	OMIM:245400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia, Small for gestational age, Proportionate short stature, Severe p...	ORPHA:391408
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes...	ORPHA:2298
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Anorexia, Hypoglycemia	OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Fever, Hypoglycemia	OMIM:620137
Galactokinase Deficiency	Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hyperc...	ORPHA:79237
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Small for gestational age, Postnatal growth retardation, Attention deficit hyperact...	ORPHA:397590
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Agitation, Pancre...	ORPHA:263455
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy	ORPHA:6
Pyridoxine-Dependent Epilepsy	Restlessness, Hypoglycemia	ORPHA:3006
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Donohue Syndrome	Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pan...	OMIM:246200
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive	OMIM:620357
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Short stature, Hypoglycemia, Adrenal hypoplasia, ...	ORPHA:95496
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, In...	ORPHA:79085
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Hypoglycemia	ORPHA:289504
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Decreased circu...	ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Intrauterine growth retardation, Failure to thrive, Hypoglycemia	OMIM:614702
Hypoadrenocorticism, Familial	Cyanosis, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia	OMIM:240200
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Intrauterine growth retardation, Hypoglycemia, Dysphagia	OMIM:618253
Glycogen Storage Disease Ixb	Growth delay, Short stature, Hypoglycemia	OMIM:261750
Late-Onset Familial Hypoaldosteronism	Fever, Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11...	ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Hypoglycemia, Dysphagia, Paroxysmal bursts of laughter	ORPHA:391428
Classic Galactosemia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Attention deficit hyperactivity disor...	ORPHA:79239
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Proportionate short stature, Increased circulating free fatty acid level, Fasting hyperinsulinemi...	ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia	OMIM:617950
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Small for gestational age, Growth delay, Recurrent hypoglycemia, Delayed puberty, ...	OMIM:616817
Solitary Fibrous Tumor	Fever, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypoinsulinemia	ORPHA:2126
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circula...	ORPHA:90790
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia	OMIM:615160
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Beta-Ketothiolase Deficiency	Fever, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia	ORPHA:134
Hemochromatosis, Neonatal	Intrauterine growth retardation, Hypoglycemia	OMIM:231100
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Severe temper tantrums, Hypoglycemia, Aggressive behavior	OMIM:617710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia	OMIM:618120
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ...	OMIM:617600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ...	ORPHA:2457
Rabson-Mendenhall Syndrome	Increased pineal volume, Short stature, Impaired glucose tolerance, Precocious puberty, Insulin-r...	ORPHA:769
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia	OMIM:248360
Propionic Acidemia	Hypoglycemia	ORPHA:35
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypoplasia, Anorexia, P...	ORPHA:95409
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, In...	ORPHA:435660
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia	ORPHA:79096
Silver-Russell Syndrome	Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious p...	ORPHA:813
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc...	OMIM:201400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Increase...	ORPHA:79240
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hypoglycemia	OMIM:614739
Pituitary Apoplexy	Fever, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Red...	ORPHA:95613
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Cyanosis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Hypoglycemia	ORPHA:2394
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased...	ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 40	Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia	OMIM:618839
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion...	ORPHA:90791
Bachmann-Bupp Syndrome	Large for gestational age, Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive beh...	OMIM:619075
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal...	ORPHA:85138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Hypoglycemia, Increased body weight, Growth delay, Fasting h...	ORPHA:264580
Timothy Syndrome	Hypothyroidism, Hypothermia, Hypoglycemia	OMIM:601005
Fanconi-Bickel Syndrome	Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Growth delay, Fasting hypogl...	ORPHA:2088
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Agitation, Neonatal hypoglycemia	OMIM:619046
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Short stature, Hypoglycemia, Large for gestational age, Glycosuria	OMIM:616026
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro...	ORPHA:199296
D-Glyceric Aciduria	Growth delay, Failure to thrive, Tongue thrusting, Hypoglycemia	OMIM:220120
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism	OMIM:617575
Propionic Acidemia	Failure to thrive, Short stature, Hypoglycemia	OMIM:606054
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Smith-Kingsmore Syndrome	Large for gestational age, Rhizomelia, Hypoglycemia	OMIM:616638
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Fever, Hypoglycemia	OMIM:246450
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Cachexia	ORPHA:42
Silver-Russell Syndrome 1	Intrauterine growth retardation, Small for gestational age, Decreased response to growth hormone ...	OMIM:180860
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Small for gestational age, Postnatal growth retardation, Intrauterine growth retard...	OMIM:617093
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Malignant hyperthermia...	OMIM:614921
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt...	ORPHA:96182
Sheehan Syndrome	Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ...	ORPHA:91355
Glycogen Storage Disease Ia	Short stature, Hypoglycemia, Hyperlipidemia, Growth delay, Xanthelasma, Fasting hypoglycemia, Del...	OMIM:232200
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Short stature	ORPHA:31
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive	OMIM:212140
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Mirage Syndrome	Short stature, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Hypoglycemia, Adrenal insuffic...	OMIM:617053
Fructose-1,6-Bisphosphatase Deficiency	Fever, Hypoglycemia	OMIM:229700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Hypothermia, Increased circulating free fatty acid level, Overweight, ...	ORPHA:26793
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Short ...	ORPHA:90794
Rett Syndrome	Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic...	ORPHA:778
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hypothermia, Abnormality of Krebs cycle metabolism, Dysphagia, Failure to thrive	ORPHA:255210
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Fasting hypoglycemia, Hypothermia, Hypoketotic hypoglycemia	ORPHA:159
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormality of temperature regulation, Heat intolerance	ORPHA:2926
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia	ORPHA:230
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hypothyroidism	OMIM:618005
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Growth delay, Failure to thrive, Hypoglycemia, Hypothermia	OMIM:251880
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Failure to thrive, Rhizomelia, Hypoglycemia	OMIM:607143
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Pfapa Syndrome	Abnormality of temperature regulation, Weight loss	ORPHA:42642
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Neon...	OMIM:619055
Deeah Syndrome	Abnormality of temperature regulation, Short stature, Decreased response to growth hormone stimul...	OMIM:619004
Malignant Hyperthermia, Susceptibility To, 5	Fever, Hypercapnia, Malignant hyperthermia	OMIM:601887
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Shashi-Pena Syndrome	Intrauterine growth retardation, Hypoglycemia	OMIM:617190
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal repetitive mannerisms, Hypoglycemia, Abnormal temper tantrums, Aggressive behavior	ORPHA:457279
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia	OMIM:251000
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia, Hypothermia	OMIM:618329
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia	OMIM:301032
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210200
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Hypoketotic hypoglycemia	OMIM:255120
Leprechaunism	Decreased body weight, Postnatal growth retardation, Insulin resistance, Hyperinsulinemia, Centra...	ORPHA:508
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Nonketotic hypoglycemia, Hypothermia, Anorexia, Weight loss, Recurrent hypoglycemia	ORPHA:20
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Fever, Hypoglycemia, Nonketotic hypoglycemia	OMIM:608836
Pyruvate Carboxylase Deficiency	Failure to thrive, Hypoglycemia, Anorexia, Growth delay, Abnormal temper tantrums, Compulsive beh...	ORPHA:3008
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Dysphagia	ORPHA:480864
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Hypoglycemia	OMIM:620275
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Short stature, Hypoglycemia, Small for gestation...	OMIM:307030
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Friedreich Ataxia	Diabetes mellitus, Decreased pyruvate carboxylase activity	OMIM:229300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Congenital Disorder Of Glycosylation, Type Iie	Short stature, Hypoglycemia, Growth delay, Intrauterine growth retardation, Failure to thrive	OMIM:608779
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Premature thelarche, Oral-pharyngeal dysphagia, Hypothyroidism, Premature pubarche	OMIM:616878
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati...	OMIM:300867
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Dilated Cardiomyopathy With Ataxia	Repetitive compulsive behavior, Growth delay, Intrauterine growth retardation, Hypothyroidism, Ne...	ORPHA:66634
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Short stature, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seiz...	ORPHA:79259
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp...	ORPHA:168558
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Dysphagia	ORPHA:26791
Leigh Syndrome	Hypoglycemia, Growth delay, Dysphagia, Intrauterine growth retardation, Failure to thrive	ORPHA:506
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia	OMIM:617049
Orthostatic Hypotension 1	Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration	OMIM:223360
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Failure t...	OMIM:609069
Isolated Complex I Deficiency	Intrauterine growth retardation, Failure to thrive, Diabetes mellitus, Hypoglycemia	ORPHA:2609
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Ins...	ORPHA:280365
Sotos Syndrome	Aggressive behavior, Increased body weight, Glucose intolerance, Attention deficit hyperactivity ...	OMIM:117550
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia	ORPHA:35173
Atypical Werner Syndrome	Failure to thrive, Diabetes mellitus, Short stature, Hypertriglyceridemia, Abnormal circulating l...	ORPHA:79474
Fanconi-Bickel Syndrome	Postnatal growth retardation, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failu...	OMIM:227810
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Spinocerebellar Ataxia Type 3	Abnormality of temperature regulation	ORPHA:98757
Shigellosis	Fever, Hypoglycemia, Failure to thrive in infancy, Anorexia	ORPHA:810
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Glutaric Acidemia I	Failure to thrive, Hypoglycemia	OMIM:231670
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short stature, Decreased response to growth hormone stimulation test, Hypoglycemia, Central adren...	OMIM:616007
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Hypothermia, Aggressive behavior, Growth delay, Failure to thrive	ORPHA:17
Glycogen Storage Disease Ib	Short stature, Hypoglycemia, Hyperlipidemia, Xanthelasma, Delayed puberty	OMIM:232220
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Growth delay, Failure to thrive...	OMIM:619418
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia	OMIM:600649
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Hashimo...	ORPHA:109
Maple Syrup Urine Disease	Hypoglycemia	OMIM:248600
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Neonatal hypoglycemia, Dysphagia, Aggressive behavior	ORPHA:572798
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Intrauterine growth retardation, Hypoglycemia	OMIM:619355
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Abnormality of temperature regulation, Short stature, Hypothermia, Obesity	OMIM:618493
3-Methylglutaconic Aciduria Type 7	Growth delay, Hypothyroidism, Neonatal hypoglycemia	ORPHA:445038
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive	OMIM:251110
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Hypothermia, Growth delay, Intrauterine growth retardation, Failure to thrive	ORPHA:79282
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glycosuria	OMIM:231680
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Neonatal hypoglycemia	ORPHA:565624
Tyrosinemia, Type I	Fever, Hypoglycemia, Growth delay, Pancreatic islet-cell hyperplasia, Failure to thrive	OMIM:276700
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Hypocholesterolemia, Intrau...	ORPHA:79324
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist...	OMIM:608594
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Abnormal repetitive mannerisms	OMIM:301066
Cholera	Fever, Hypoglycemia	ORPHA:173
Mitochondrial Trifunctional Protein Deficiency 1	Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia	OMIM:609015
3-Methylglutaconic Aciduria, Type Viib	Growth delay, Intrauterine growth retardation, Rhizomelia, Neonatal hypoglycemia	OMIM:616271
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Short stature, Hypoglycemia, Growth delay, Recurrent hypoglycemia, Failure to thrive	OMIM:256810
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Histiocytoid Cardiomyopathy	Fever, Failure to thrive, Cyanosis, Hypoglycemia	ORPHA:137675
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive	OMIM:251100
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210210
Cerebral Visual Impairment	Neonatal hypoglycemia, Attention deficit hyperactivity disorder	ORPHA:447788
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellit...	OMIM:269700
Beta-Thalassemia	Abnormality of temperature regulation, Hypogonadotropic hypogonadism	ORPHA:848
Joubert Syndrome 35	Abnormality of temperature regulation	OMIM:618161
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity	OMIM:277410
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia	ORPHA:746
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Nestor-Guillermo Progeria Syndrome	Growth delay, Failure to thrive, Short stature, Decreased serum leptin	OMIM:614008
D-Glyceric Aciduria	Increased circulating free fatty acid level	ORPHA:941
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive	ORPHA:99901
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ...	OMIM:620305
Mitochondrial Complex I Deficiency, Nuclear Type 1	Growth delay, Failure to thrive, Cyanosis, Hypoglycemia	OMIM:252010
Immunodeficiency 59 And Hypoglycemia	Short stature, Hypoglycemia	OMIM:233600
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive	OMIM:277400
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia	OMIM:201475
Holoprosencephaly	Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Panhypopituitarism, Anterior hypop...	ORPHA:2162
Fumarase Deficiency	Failure to thrive, Decreased fumarate hydratase activity	OMIM:606812
Cockayne Syndrome Type 1	Postnatal growth retardation, Male hypogonadism, Failure to thrive, Abnormality of temperature re...	ORPHA:90321
Machado-Joseph Disease Type 1	Abnormality of temperature regulation, Dysphagia	ORPHA:276238
Machado-Joseph Disease Type 2	Abnormality of temperature regulation, Dysphagia	ORPHA:276241
Acute Liver Failure	Fever, Hypoglycemia, Agitation, Adrenal insufficiency, Hypocapnia	ORPHA:90062
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hypoglycemia, Delayed puberty	OMIM:232240
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Intrauterine growth retardation, Failure to thrive, Hypoglycemia	OMIM:617156
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia, Dysphagia	ORPHA:25
Menkes Disease	Intrauterine growth retardation, Hypoglycemia, Hypothermia	ORPHA:565
Machado-Joseph Disease Type 3	Abnormality of temperature regulation, Dysphagia	ORPHA:276244
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Hypoglycemia, Small for gestational age, Growth delay, Intrauterine growth retarda...	OMIM:613658
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Hypoketotic hypoglycemia	ORPHA:157
Perlman Syndrome	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:267000
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Stuve-Wiedemann Syndrome 1	Fever, Abnormality of temperature regulation, Short stature, Dysphagia, Recurrent fever	OMIM:601559
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Abnormality of temperature regulation	OMIM:619173
Marburg Hemorrhagic Fever	Fever, Hypoglycemia, Hypothermia, Anorexia, Aggressive behavior	ORPHA:99826
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperlipidemia, Hypoketotic hypoglycemia	ORPHA:228308
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Hyperglycemia	OMIM:124000
Ulnar-Mammary Syndrome	Abnormality of temperature regulation, Short stature, Obesity, Delayed puberty	ORPHA:3138
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Failure to thrive, Neonatal hypoglycemia, Dysphagia	OMIM:617248
Malignant Hyperthermia Of Anesthesia	Fever, Hypercapnia, Malignant hyperthermia	ORPHA:423
Primary Fanconi Renotubular Syndrome	Growth delay, Weight loss, Hypoglycemia, Glycosuria	ORPHA:3337
Congenital Myopathy 13	Hypoxemia, Short stature, Hypercapnia, Malignant hyperthermia	OMIM:255995
Central Hypoventilation Syndrome, Congenital, 1	Hypoxemia, Abnormality of temperature regulation, Hypercapnia	OMIM:209880
Beckwith-Wiedemann Syndrome	Adrenocortical cytomegaly, Hypoglycemia, Large for gestational age, Adrenocortical carcinoma, Pse...	ORPHA:116
Hereditary Fructose Intolerance	Growth delay, Reactive hypoglycemia	ORPHA:469
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia, Dysphagia, Hyperglycemia, Failure to thrive	OMIM:220111
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe fa...	ORPHA:740
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism, Hypercapnia	ORPHA:505395
Keppen-Lubinsky Syndrome	Failure to thrive, Decreased serum leptin	OMIM:614098
Costello Syndrome	Failure to thrive, Short stature, Hypoglycemia	OMIM:218040
Simpson-Golabi-Behmel Syndrome	Pancreatic islet-cell hyperplasia, Hypoglycemia	ORPHA:373
Fructose Intolerance, Hereditary	Failure to thrive, Hypoglycemia, Glycosuria	OMIM:229600
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Neonatal hypoglycemia	OMIM:261740
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Weight loss, Hypoxemia, Dysphagia, Failure to thrive	ORPHA:2020
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Holoprosencephaly 1	Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Oculopharyngodistal Myopathy 1	Weight loss, Hypercapnia, Dysphagia	OMIM:164310
Chronic Mucocutaneous Candidiasis	Abnormality of temperature regulation	ORPHA:1334
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Friedreich Ataxia 2	Diabetic ketoacidosis, Decreased pyruvate carboxylase activity	OMIM:601992
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypercapnia	OMIM:618222
Beckwith-Wiedemann Syndrome	Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia	OMIM:130650
Acute Transverse Myelitis	Fever, Abnormality of temperature regulation	ORPHA:139417
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Abnormality of temperature regulation, Growth delay, Failure to thrive, Hea...	ORPHA:2273
Absence Of The Pulmonary Artery	Growth delay, Cyanosis, Hypocapnia	ORPHA:980
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Abnormality of temperature regulation	ORPHA:667
Exercise-Induced Malignant Hyperthermia	Malignant hyperthermia, Hypocapnia	ORPHA:466650
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Hypocapnia	ORPHA:70591
Bickerstaff Brainstem Encephalitis	Hypercapnia	ORPHA:79138
Sotos Syndrome	Neonatal hypoglycemia, Hypothyroidism, Attention deficit hyperactivity disorder, Aggressive behavior	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 Acss1

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 Acss1.

No publications found that use IMPC mice or data for Acss1.

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
Acss1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Acss1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Acss1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Acss1^{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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