Gene Summary

Name:
ATP-binding cassette, sub-family C (CFTR/MRP), 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
increased lean body mass Abcc8em1(IMPC)J HOM Early adult 7.48×10-06
impaired glucose tolerance Abcc8em1(IMPC)J HOM Early adult 4.04×10-19

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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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Eye Morphology

Images Slit Lamp

2 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 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
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 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
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
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
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
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
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly OMIM:306000
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Hypoglycemia, Central hypothyroidism OMIM:616113
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly OMIM:232700
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Excessive insulin response to... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent pancreatitis, Increased g... OMIM:619290
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hypogonadism OMIM:617872
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Acth Deficiency, Isolated
Fasting hypoglycemia, Cholestasis, Decreased circulating cortisol level, Jaundice, Adrenal hypopl... OMIM:201400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Diabetes mellitus, Type II diabetes mellitu... ORPHA:181393
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepat... ORPHA:276556
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Cirrhosis OMIM:617156
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Adrenal hypop... ORPHA:199296
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Mody
Exocrine pancreatic insufficiency, Glycosuria, Neonatal hypoglycemia, Pancreatic hypoplasia, Hype... ORPHA:552
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hyperglycemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Cirrhosis, Hepat... OMIM:231100
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Hyperhidrosis ORPHA:231147
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant di... OMIM:604367
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Precocious puberty, Congenital hypothyroidism OMIM:614736
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia, Hyperhidrosis ORPHA:231140
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246900
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Cirrhosis, Hepat... ORPHA:369
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Hypoglycemia, Male hypogonadism, Delayed p... OMIM:300148
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:202200
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Panhypopituitarism, Decr... ORPHA:95619
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulat... ORPHA:94086
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Hepatomegaly, ... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Pancreatitis OMIM:619386
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:619048
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Glycogen Storage Disease Iii
Hypoglycemia, Hepatomegaly, Hepatic fibrosis OMIM:232400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Hepatomegaly OMIM:261680
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia OMIM:600955
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
2P21 Microdeletion Syndrome
Hypoglycemia, Hypogonadism ORPHA:163693
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly ORPHA:75563
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Pancreatic adenocarcinoma, Abnormal pancreatic duct morpholog... ORPHA:103918
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Adrenocortical hypoplasia OMIM:307030
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Hepatomegaly OMIM:618958
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Ovarian c... OMIM:246200
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice OMIM:616483
Temple Syndrome
Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Type II diabetes m... ORPHA:254516
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevated ci... OMIM:131100
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Prolonged neonatal jaundice, Cirrho... OMIM:256810
Laron Syndrome
Abnormality of the endocrine system, Hypoglycemia, Hypohidrosis, Delayed puberty ORPHA:633
Hereditary Chronic Pancreatitis
Pancreatic calcification, Diabetes mellitus, Recurrent pancreatitis, Jaundice ORPHA:676
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Hypoketotic hypoglycemia, Hypoglycemic seizures OMIM:231530
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease ORPHA:5
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Hyperhidrosis ORPHA:231137
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Biliary cirrhosis, Fasting hypoglycemia, Abnormal salivary gla... ORPHA:2298
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hepatomegaly, Diabetes mellitus OMIM:616026
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:201450
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hepatomegaly ORPHA:156
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism ORPHA:79237
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splenomegaly, Depletio... OMIM:251880
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimulation test ORPHA:436174
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Diabetes mell... ORPHA:2088
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypogonadism OMIM:617575
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Hepatomegaly ORPHA:2394
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Hypoglycemia, Central adrenal insufficienc... OMIM:615577
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hyperhidrosis OMIM:245400
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormality of the peritoneum, Hypoi... ORPHA:2126
Classic Galactosemia
Hypoglycemia, Hepatomegaly, Jaundice, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Cholangiocarcinoma, Decreased... ORPHA:465508
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Hypoglycemia, Diabetes mellitus, Delayed puberty ORPHA:391408
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly OMIM:255120
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergonadotropic h... OMIM:606407
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Hypogonadism ORPHA:73272
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Hypoglycemia, Jaundice OMIM:617049
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Hepatomegaly ORPHA:42
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:212138
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly ORPHA:348
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hypopituitarism, Hypergonadotropic hypogonadism, Increa... ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly OMIM:619046
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hashimoto thyroiditis, Graves disease, Decreased circulating cortisol level, Adreno... ORPHA:199299
Cog8-Cdg
Hypoglycemia ORPHA:95428
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Jaundice OMIM:231680
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:606054
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246450
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Insuli... OMIM:151660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Hypothyroidism, Delayed puberty OMIM:616817
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Delayed puberty, Splenomegaly... ORPHA:264580
Short Syndrome
Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypoglycemia, Abnormal size of pituitary gla... ORPHA:91355
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia ORPHA:397590
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Fasting hyperinsulinemia, Hepati... ORPHA:71212
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia OMIM:608624
Glutaric Acidemia I
Hypoglycemia, Hepatomegaly OMIM:231670
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Hyperglycemia, R... ORPHA:99885
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Decreased circulating cortisol level, Jaundice, Abnormal circulating androgen level... ORPHA:90790
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal... ORPHA:786
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Hepatomegaly, Hepatocellular nec... OMIM:201475
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Recurrent hypoglycemia, Splenomegaly, Hepatomegaly, C... ORPHA:79240
Silver-Russell Syndrome 1
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Hepatocellular carci... OMIM:180860
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Hypoglycemia, Chronic hepatitis, Increased hepatic glycogen content, Hepatomeg... OMIM:614921
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Acute pancreatitis, Insulin resistance, Elevated circulating lutei... OMIM:617253
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:228305
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis ORPHA:26791
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Delayed puberty, Splenomegaly, Hepatomegaly... ORPHA:370
Glycogen Storage Disease Ia
Hypoglycemia, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Delayed puberty OMIM:232200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Recurrent hypogly... ORPHA:293978
Addison Disease
Primary adrenal insufficiency, Hypoglycemia, Increased circulating renin level, Hashimoto thyroid... ORPHA:85138
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Nonketotic hypoglycemia, Lipid accumulation in hepatocytes, Hepatomegaly, Macrovesi... OMIM:608836
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Glycogen Storage Disease Ib
Hypoglycemia, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Delayed puberty OMIM:232220
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Delayed puberty, A... ORPHA:90695
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia ORPHA:134
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Cholestasis, Hepatitis, Cholestatic liver disease, Postprandial hyperglycemia ORPHA:440713
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis OMIM:124000
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Fasting hypoglycemia, Hepatomegaly ORPHA:159
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Jaundice OMIM:228100
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Hypoglycemia, Hepatomegaly OMIM:233600
Tyrosinemia, Type I
Hypoglycemia, Pancreatic islet-cell hyperplasia, Splenomegaly, Hepatomegaly, Cirrhosis, Hepatocel... OMIM:276700
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Hypoglycemia OMIM:618005
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Dend Syndrome
Hyperglycemia ORPHA:79134
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hypoglycemia, Increased circulating renin level, Decreased circula... ORPHA:95409
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Hypoglycemia, Hypergonadotropic hypogonadism OMIM:617053
Sotos Syndrome
Prolonged neonatal jaundice, Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hypoglycemia, Macrovesicular hepatic steatosis OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:608779
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Premature adrenarche, Precocious puberty, Hyperhidrosis ORPHA:813
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Hypothyroidism, Hypoglycemia, Premature pubarche OMIM:616878
Glycogen Storage Disease Ic
Hepatoblastoma, Hypoglycemia, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Delay... OMIM:232240
Isolated Complex I Deficiency
Hepatomegaly, Hypoglycemia, Diabetes mellitus ORPHA:2609
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis ORPHA:445038
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Cholestasis OMIM:609015
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Hypoketotic hypoglycemia, Hypoparathyroidism, Cholestasis ORPHA:746
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia ORPHA:66634
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:289548
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia ORPHA:99901
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:168558
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... ORPHA:20
Hepatocellular Carcinoma
Hypoglycemia, Portal hypertension, Abnormality of the liver, Hepatomegaly, Jaundice, Hepatic necr... ORPHA:88673
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Hepatic steatosis, Delayed puberty, Increase... ORPHA:79259
Hereditary Fructose Intolerance
Jaundice, Episodic hyperhidrosis, Hepatomegaly, Reactive hypoglycemia ORPHA:469
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Thyroid carcinoma, Neoplasm of the adrenal cortex, Hypoglycemia ORPHA:109
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Precocious puberty OMIM:301066
Cholera
Hypoglycemia ORPHA:173
Shigellosis
Peritonitis, Hypoglycemia, Splenic abscess, Cholestasis ORPHA:810
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Leigh Syndrome
Hypoglycemia ORPHA:506
Leprechaunism
Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Increased cir... ORPHA:508
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Delayed puberty, A... ORPHA:95494
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Precocious puberty, Decreased res... ORPHA:96182
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Jaundice, Cirrhosis OMIM:229600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatomegaly, Jaundice ORPHA:26793
Holoprosencephaly
Hypoglycemia, Diabetes insipidus, Panhypopituitarism, Anterior hypopituitarism, Diabetes mellitus... ORPHA:2162
Deeah Syndrome
Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Hypohidrosis, Anterior pituitary hypopl... OMIM:619004
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia ORPHA:3008
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hepatic calcification, Hepatomegaly ORPHA:157
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Diabetes mellitus, Hyperg... OMIM:600001
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatic calcification, Hepatomegaly ORPHA:228308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... ORPHA:90794
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hyperhidrosis ORPHA:17
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse goiter, Graves disease... ORPHA:79102
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Jaundice ORPHA:79282
Bannayan-Riley-Ruvalcaba syndrome
Hashimoto thyroiditis, Hypoglycemia OMIM:153480
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypohidrosis, Abnormality of the hypothalamu... ORPHA:293987
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia, Splenomegaly, Hepatomegaly OMIM:252010
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Hypoglycemia, Hepatoblastoma, Neonatal hypogly... ORPHA:116
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Hypoglycemia, Pancreatic islet-cell hyperplasia, Splenomegaly, Hepatomegaly, Poly... ORPHA:373
Menkes Disease
Prolonged neonatal jaundice, Hypoglycemia ORPHA:565
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Hyperinsulinemia, Delayed puberty, Insulin-resistant diabetes mell... ORPHA:79474
Alg12-Cdg
Recurrent hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:79324
Acute Liver Failure
Adrenal insufficiency, Hypoglycemia, Hepatocellular necrosis, Hepatic periportal necrosis, Jaundi... ORPHA:90062
Histiocytoid Cardiomyopathy
Hypoglycemia, Hepatomegaly ORPHA:137675
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Hypoglycemia, Portal hypertension, Cholestasis, Bile duct proliferation, Cirrh... OMIM:613658
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia ORPHA:3337
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Hyperglycemia, Hyperhidrosis ORPHA:466677
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Neonatal hypoglycemia, Adrenocortical carcinoma, Pancreatic hyperplasia, Hepatome... OMIM:130650
Marburg Hemorrhagic Fever
Hypoglycemia, Orchitis, Jaundice, Pancreatitis ORPHA:99826
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
Holoprosencephaly 1
Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Costello Syndrome
Hypoglycemia OMIM:218040
Sotos Syndrome
Prolonged neonatal jaundice, Neonatal hypoglycemia, Hypothyroidism 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.

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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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