Gene Summary

Name:
ATP-binding cassette, sub-family C member 8
Synonyms:
Sur,  D930031B21Rik,  SUR1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Abcc8em1(IMPC)J HOM Early adult 2.90×10-21
increased lean body mass Abcc8em1(IMPC)J HOM Early adult 7.48×10-06

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

2 Images

Electrocardiogram (ECG)

Waveform Image

6 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Abcc8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Abcc8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Glycogen Storage Disease Vi
Hypoglycemia, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemic... ORPHA:276608
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Episodic hyperhidrosis, Hypoketotic h... ORPHA:276580
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276575
Diarrhea 13
Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... ORPHA:199296
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Glycogen Storage Disease Ixb
Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosis, Prolonged neonatal jaundice, H... OMIM:231100
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Hyperhidrosis ORPHA:231147
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hyperhidrosis, Hypoglycemia ORPHA:231140
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, He... ORPHA:369
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Glucocorticoid Deficiency 1
Abnormal circulating renin, Decreased circulating cortisol level, Abnormal circulating aldosteron... OMIM:202200
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Mehmo Syndrome
Delayed puberty, Hypoglycemia, Male hypogonadism, Decreased response to growth hormone stimulatio... OMIM:300148
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Prolonged neonatal jaundice, Neonatal hypoglycemia, Anterior hypopituitarism ORPHA:631
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:306000
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Pancreatitis, Hepatic steatosis, Adrenal insufficiency OMIM:619386
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... OMIM:615954
Glycogen Storage Disease Iii
Hypoglycemia, Hepatomegaly, Hepatic fibrosis OMIM:232400
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Hepatomegaly, Hepatic steatosis OMIM:619048
2P21 Microdeletion Syndrome
Hypoglycemia, Hypogonadism ORPHA:163693
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... OMIM:616113
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246900
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, In... OMIM:261680
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly ORPHA:75563
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... OMIM:167800
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hypoglycemia, Fasting hypoglyc... ORPHA:263455
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice OMIM:616483
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Ovarian c... OMIM:246200
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Hepatomegaly OMIM:618958
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli... ORPHA:254516
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:5
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism ORPHA:48431
Hereditary Chronic Pancreatitis
Diabetes mellitus, Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... OMIM:131100
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketotic hypoglycemia OMIM:231530
Laron Syndrome
Delayed puberty, Hypoglycemia, Hypohidrosis, Abnormality of the endocrine system ORPHA:633
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Hyperhidrosis ORPHA:231137
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia OMIM:600649
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Diabetes mellitus, Hepatomegaly OMIM:616026
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia ORPHA:79237
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Hepatomegaly ORPHA:2394
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hepatomegaly ORPHA:156
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Pancreatitis OMIM:248600
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Hepatomegaly, Hepatic steatosis OMIM:201450
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Aromatic L-Amino Acid Decarboxylase Deficiency
Increased circulating prolactin concentration, Hypoglycemia, Hyperhidrosis ORPHA:35708
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... OMIM:615577
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level OMIM:618839
Classic Galactosemia
Delayed puberty, Hepatomegaly, Jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia ORPHA:79239
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Recurrent hyp... OMIM:212140
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hyperhidrosis OMIM:245400
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Neoplasm o... ORPHA:2126
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus OMIM:609069
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Hepatic steatosis ORPHA:42
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Hypoglycemia, Diabetes mellitus, Hypothyroidism ORPHA:391408
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Jaundice, Cirrhosis OMIM:617049
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Cole Disease
Hyperglycemia OMIM:615522
Reni Syndrome
Hypothyroidism, Hypoglycemia, Hypogonadism, Adrenal insufficiency OMIM:617575
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:212138
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:606054
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Testicular atrophy, Portal hypertension, Hypot... ORPHA:465508
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism ORPHA:73272
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis ORPHA:348
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorticotropic h... ORPHA:199299
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Hyperglycemia OMIM:615453
Cog8-Cdg
Hypoglycemia ORPHA:95428
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly OMIM:619046
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia, Hepatomegaly, Hepatic steatosis OMIM:605911
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergonadotropic h... OMIM:606407
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Decreased circulating dehydroepiandrosterone concent... ORPHA:361
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hepatocellular carcinoma, Fasting hypoglyc... OMIM:180860
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Pol... OMIM:151660
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypothyroidism, Recurrent hypoglycemia OMIM:616817
Immunodeficiency 10
Hypohidrosis, Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:612783
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:251000
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Nodular regenerative hyperplasia ... OMIM:620454
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Fasting hypogl... ORPHA:264580
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Hepatic steatosis OMIM:231680
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hepatic necrosis, Hyperin... ORPHA:71212
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Portal hypertension, Hepatocellular necrosis, Deplet... OMIM:251880
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Neonatal insulin... ORPHA:99885
Glycogen Storage Disease Ia
Delayed puberty, Hepatomegaly, Pancreatitis, Fasting hypoglycemia, Hepatocellular carcinoma, Hypo... OMIM:232200
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia ORPHA:397590
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Hepatic stea... OMIM:201475
Long-Olsen-Distelmaier Syndrome
Hypoglycemia OMIM:620609
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortis... ORPHA:90790
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased serum testo... ORPHA:90791
Short Syndrome
Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes ... OMIM:269880
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Glutaric Acidemia I
Hypoglycemia, Hepatomegaly OMIM:231670
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Ketotic hypoglycemia, Hepa... ORPHA:79240
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Hepa... OMIM:614921
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micr... OMIM:619418
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... ORPHA:769
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia OMIM:620300
Dend Syndrome
Hyperglycemia ORPHA:79134
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Hypoglycemia, Hepatic steatosis OMIM:617093
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis ORPHA:26791
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228305
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Cholestasis, Portal hypertension, Hepatitis, Postprandial hyperglycemia ORPHA:440713
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia OMIM:255120
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Glycogen Storage Disease Ib
Delayed puberty, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Hypoglycemia... OMIM:232220
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia, Cholelithiasis OMIM:620646
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Nonketotic hypoglycemia, Hypoglycemia, Hepatic ca... OMIM:608836
Mirage Syndrome
Adrenal hypoplasia, Hypergonadotropic hypogonadism, Hypoplastic spleen, Hypoglycemia, Adrenal ins... OMIM:617053
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
D-Glyceric Aciduria
Hypoglycemia OMIM:220120
Addison Disease
Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Hypoglycemia, In... ORPHA:85138
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:159
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia, Compensated hypothyroidism ORPHA:480864
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Macrovesicular hepatic steatosis, Bile duct proliferation OMIM:618329
Isolated Complex I Deficiency
Hypoglycemia, Diabetes mellitus, Hepatomegaly ORPHA:2609
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Hypoglycemia OMIM:618005
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature pubarche, Premature thelarche OMIM:616878
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Hypoglycemia, Hepatomegaly OMIM:233600
Methylmalonic Aciduria, Cblb Type
Hypoglycemia, Hepatomegaly OMIM:251110
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia OMIM:607143
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis ORPHA:445038
Silver-Russell Syndrome
Precocious puberty, Hyperhidrosis, Premature adrenarche, Recurrent hypoglycemia, Insulin resistance ORPHA:813
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating renin level, P... ORPHA:95409
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Mitochondrial Trifunctional Protein Deficiency 1
Cholestasis, Hypoketotic hypoglycemia OMIM:609015
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Jaundice, Splenomegaly, Hepatomegaly OMIM:608779
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia OMIM:617156
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... OMIM:203800
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Microvesicular hepatic steatosis, Neonatal hypoglycemia ORPHA:66634
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246450
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Hepatic steatosis ORPHA:99901
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation test OMIM:616007
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Jaundice OMIM:615751
Glycogen Storage Disease Ic
Delayed puberty, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Hy... OMIM:232240
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Hypoketotic hypoglycemia, Diffuse hepatic steatosis ORPHA:746
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Hyperglycemia, Insulin-resistant diab... OMIM:248370
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipi... ORPHA:20
Sotos Syndrome
Prolonged neonatal jaundice, Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:289548
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Incre... ORPHA:79259
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:168558
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:267000
Congenital Syphilis
Prolonged neonatal jaundice, Hypoglycemia, Pancreatitis, Hepatosplenomegaly ORPHA:499009
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Hypoglycemia, Pancreatic islet-c... OMIM:276700
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia OMIM:620423
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Neoplasm of the adrenal cortex, Hypoglycemia, Hashimoto thyroiditis ORPHA:109
Hereditary Fructose Intolerance
Episodic hyperhidrosis, Jaundice, Reactive hypoglycemia, Hepatomegaly ORPHA:469
Cholera
Hypoglycemia ORPHA:173
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis OMIM:616271
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Hyperglycemia, R... OMIM:124000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Shigellosis
Splenic abscess, Hypoglycemia, Cholestasis, Peritonitis ORPHA:810
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:26793
Glycerol Kinase Deficiency
Hypoglycemia, Adrenocortical hypoplasia, Chronic pancreatitis, Adrenal insufficiency OMIM:307030
Leigh Syndrome
Hypoglycemia ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Hepatosplenomegaly, Hypoglycemia, Cholecystitis OMIM:301066
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Deeah Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Anter... OMIM:619004
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ... ORPHA:508
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Holoprosencephaly
Anterior hypopituitarism, Diabetes insipidus, Panhypopituitarism, Abnormality of the spleen, Hypo... ORPHA:2162
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic calcification ORPHA:157
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Hepatomegaly, Glycosuria, Hypoglycemia, Hepatic steatosis OMIM:229600
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:3008
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Absent gallbladder, Diabetes m... OMIM:600001
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Hyperhidrosis, Hepatic steatosis, Hepatomegaly ORPHA:17
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatic calcification ORPHA:228308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating ACTH level, Increased circulating androstenedione concentration, Neonatal h... ORPHA:90794
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:252010
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Jaundice ORPHA:79282
Alg12-Cdg
Recurrent hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:79324
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Cholestasis, Portal hypertension, Bile duct proliferation, Hypoglycemia, Hepatic steat... OMIM:613658
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Adrenocortical carcinoma, Pseu... ORPHA:116
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Splenomegaly, Hepatoblastoma, Hypoglycemia, Pancreatic islet-cell hyperplasia, Poly... ORPHA:373
Histiocytoid Cardiomyopathy
Hypoglycemia, Hepatomegaly ORPHA:137675
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Ovarian neoplasm, Abnormal test... ORPHA:79474
Menkes Disease
Prolonged neonatal jaundice, Hypoglycemia ORPHA:565
Acute Liver Failure
Jaundice, Hepatic periportal necrosis, Hepatocellular necrosis, Hepatic necrosis, Hypoglycemia, H... ORPHA:90062
Neurooculorenal Syndrome
Decreased circulating ACTH concentration, Central hypothyroidism, Decreased circulating cortisol ... OMIM:620305
Scorpion Envenomation
Acute pancreatitis, Glycosuria, Hyperhidrosis, Hyperglycemia ORPHA:466677
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia ORPHA:3337
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Pancreatic hyperplasia, Hepatoblastoma, Adrenocortical cytom... OMIM:130650
Holoprosencephaly 1
Hypoglycemia, Adrenal hypoplasia, Diabetes insipidus OMIM:236100
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Marburg Hemorrhagic Fever
Hypoglycemia, Jaundice, Pancreatitis, Orchitis ORPHA:99826
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Decreased c... OMIM:201750
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia ORPHA:444077
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Jaundice OMIM:617248
Costello Syndrome
Hypoglycemia OMIM:218040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Bardet-Biedl Syndrome
Impaired fasting glucose, Abnormality of the endocrine system, Hypoplasia of the ovary, Hypothyro... ORPHA:110
Sotos Syndrome
Hypothyroidism, Prolonged neonatal jaundice, 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 Abcc8

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 Abcc8.

No publications found that use IMPC mice or data for Abcc8.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Abcc8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Abcc8tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Abcc8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abcc8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Abcc8em1(IMPC)J Exon Deletion Mice

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