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Gene: Abcc8 MGI:1352629

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Gene Summary

Name:
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Synonyms:
Sur,  D930031B21Rik,  SUR1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Abcc8em1(IMPC)J HOM Early adult 3.76×10-20
increased lean body mass Abcc8em1(IMPC)J HOM Early adult 7.48×10-06

Download data as:  TSV  XLS

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

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Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

5 Images

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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
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I 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
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... ORPHA:263458
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Prolonged neonatal jaundice, Decr... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, 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
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Maturity-onset diabetes of the young, Obesity OMIM:613375
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... OMIM:147630
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Elevated circulating thyroid-st... ORPHA:171706
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:232700
Essential Fructosuria
Hyperglycemia ORPHA:2056
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... ORPHA:293964
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young OMIM:616329
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Prolonged neonatal jaundice, Hypoglycemia ORPHA:446
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... ORPHA:276608
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Jaundice, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Growth Hormone Insensitivity Syndrome
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Type II diabetes mellitus, Insulin resistanc... ORPHA:181393
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus OMIM:606176
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Excessive insulin response to glucagon test, Hepatomegaly, Episodic hyperhi... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concent... OMIM:620211
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... OMIM:262600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... ORPHA:79644
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hepat... ORPHA:276556
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Mody
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc... ORPHA:552
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hemochromatosis, Neonatal
Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Cirrhosis, Hepatocellular necrosis, H... OMIM:231100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hyperhidrosis, Hypoglycemia ORPHA:231147
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient adrenal insufficiency, P... ORPHA:199296
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Hypoglycemi... OMIM:613027
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Polycystic ovaries, Cirrhosis, Hyperinsulinemia, Hyperglycemia, Type II diabet... OMIM:604367
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... OMIM:613986
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Delayed puberty, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Portal fibr... ORPHA:369
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, C... OMIM:614736
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hyperhidrosis, Hypoglycemia ORPHA:231140
Insulinoma
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... ORPHA:97279
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:306000
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... ORPHA:453533
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955
Glucocorticoid Deficiency 1
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, R... OMIM:202200
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Decreased circulating ACT... ORPHA:95619
Mehmo Syndrome
Delayed puberty, Male hypogonadism, Decreased response to growth hormone stimulation test, Hypogl... OMIM:300148
Familial Renal Glucosuria
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... ORPHA:69076
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Adrenal insufficiency, Hepatic steatosis, Hypoglycemia OMIM:619386
Blue Diaper Syndrome
Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Increased... ORPHA:94086
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Hypoglycemia OMIM:232400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... OMIM:615954
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:619048
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatomegaly, Increased hepatic echogenicity, Impaired gluconeogenesis, Hep... OMIM:261680
Hemochromatosis, Type 4
Impaired glucose tolerance, Diabetes mellitus, Hepatomegaly, Cirrhosis, Glucose intolerance, Hepa... OMIM:606069
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246900
2P21 Microdeletion Syndrome
Hypoglycemia, Hypogonadism ORPHA:163693
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia OMIM:615935
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Cholestasis, Diabetes mellitus, Hyperglycemia, Biliary atresia, Absent gal... OMIM:615710
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal thyroid-stimulating hormone level... OMIM:616113
Tropical Calcific Pancreatitis
Chronic pancreatitis, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas,... OMIM:608189
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly ORPHA:75563
Pituitary Stalk Interruption Syndrome
Delayed puberty, Adrenal hypoplasia, Diabetes insipidus, Ectopic posterior pituitary, Hypothyroid... ORPHA:95496
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Hepat... ORPHA:263455
Pancreatitis, Hereditary
Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Exocrine pancre... OMIM:167800
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Tropical Pancreatitis
Maternal diabetes, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreati... ORPHA:103918
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Donohue Syndrome
Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,... OMIM:246200
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia OMIM:618958
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus, Decreased response to growth hormone stimulati... ORPHA:254516
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Multiple Endocrine Neoplasia, Type I
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adrenocortic... OMIM:131100
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:5
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Diabetes mellitus, Hepatic bridging fibrosis, Increased ci... ORPHA:139507
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Hereditary Chronic Pancreatitis
Diabetes mellitus, Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic necrosis, Hypoglycemic seizures OMIM:231530
Estrogen Resistance
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Polycystic ... OMIM:615363
Laron Syndrome
Delayed puberty, Hypohidrosis, Hypoglycemia, Abnormality of the endocrine system ORPHA:633
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hyperhidrosis, Hypoglycemia ORPHA:231137
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Hypoketotic hypoglycemia OMIM:600649
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mel... OMIM:260370
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Maple Syrup Urine Disease
Pancreatitis, Hypoglycemia OMIM:248600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypoglycemia, Hepatomegaly, Glycosuria OMIM:616026
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Increased serum testosterone level, Glycosuria, Abnormal salivary gland mor... ORPHA:2298
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Galactokinase Deficiency
Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia ORPHA:79237
Cole Disease
Hyperglycemia OMIM:615522
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia ORPHA:156
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hypoglycemia ORPHA:2394
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
Hepatocellular carcinoma, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes ... ORPHA:2088
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
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
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Hypoglycemia, Cirrhosis OMIM:617049
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperhidrosis, Hypoglycemia OMIM:245400
Classic Galactosemia
Delayed puberty, Jaundice, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia ORPHA:79239
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Solitary Fibrous Tumor
Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypoinsulinemia, Hy... ORPHA:2126
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepatic steatosis,... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:212138
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia, Pancreatic aplasia, Hypoglycemia OMIM:609069
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Hypoglycemia ORPHA:42
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Delayed puberty, Hypoglycemia, Hypothyroidism ORPHA:391408
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Cirrhosis, Cholang... ORPHA:465508
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Hypothyroidism OMIM:617575
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Hypogonadism, Insulin resistance ORPHA:73272
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hepatomegaly, Hepatic steatosis, Hypoglycemia ORPHA:348
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Propionic Acidemia
Pancreatitis, Hepatomegaly, Hypoglycemia OMIM:606054
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Hepatomegaly, Hypoglycemia OMIM:251000
Cog8-Cdg
Hypoglycemia ORPHA:95428
Timothy Syndrome
Hypoglycemia, Hypothyroidism OMIM:601005
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly OMIM:619046
Pituitary Apoplexy
Hypopituitarism, Elevated circulating growth hormone concentration, Increased circulating prolact... ORPHA:95613
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Late-Onset Isolated Acth Deficiency
Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Hypop... ORPHA:199299
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergonadotropic h... OMIM:606407
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia OMIM:255120
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246450
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Depletion of mitochondrial DNA in liver, Portal hype... OMIM:251880
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II di... OMIM:151660
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, Recurrent hypoglycemia, Hypothyroidism OMIM:616817
Silver-Russell Syndrome 1
Hepatocellular carcinoma, Fasting hypoglycemia, Decreased response to growth hormone stimulation ... OMIM:180860
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Glycosuria, Hepatomegaly, Hepatic steatosis, Hepatic periportal necrosis, Hypoglycemia OMIM:231680
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Delayed puberty, Hepatocellular adenoma, Cholestasis, Hepatic fibrosis, Hep... ORPHA:264580
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Abnormal circulating adrenocorticotro... ORPHA:361
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic steatosis, Hyperi... ORPHA:71212
Sheehan Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Decreased circulating... ORPHA:91355
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Jaundice, Increased circulating ACTH level, Abnormal circulating androgen le... ORPHA:90790
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Hypothyroidism ORPHA:397590
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Delayed puberty, Fasting hypoglycemia, Pancreatitis, Hepatomegaly, Hypo... OMIM:232200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular nec... OMIM:201475
Short Syndrome
Hyperglycemia, Glucose intolerance, Ovarian cyst, Insulin resistance, Insulin-resistant diabetes ... OMIM:269880
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Neonatal hyp... ORPHA:90791
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Increased circulating ACTH level, Increased circulating cortisol level, Decr... ORPHA:786
Necrotizing Enterocolitis
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, R... ORPHA:99885
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia, Precocious puberty OMIM:301032
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Fasting hypoglycemia, Ketotic hypoglycemia, Hepatocellular adenoma, Rec... ORPHA:79240
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Chronic hepatitis, Intrahepatic cholestasis, Hepatomegaly, Hepatitis, Hepatic st... OMIM:614921
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia OMIM:608612
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Increased p... ORPHA:769
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Neonatal hypoglycemia, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Poly... OMIM:619418
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Hepatic steatosis, Hypoglycemia OMIM:617093
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228305
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hepatomegaly, Hypoglycemia, Hepatic periportal necrosis ORPHA:26791
D-Glyceric Aciduria
Hypoglycemia OMIM:220120
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism, Inappropriate antidiuretic hormone secretion, Prolonged neonatal jaundice, Decre... ORPHA:226307
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Delayed puberty, Pancreatitis, Hepatomegaly, Pancreatic fibrosis, Splen... OMIM:232220
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Delayed puberty, Fasting hypoglycemia, Hepatocellular adenoma, Cholesta... ORPHA:370
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatocellular carcinoma, Jaundice, Cholestasis, Recurrent hypoglycemia, Hepatomegaly, Prolonged ... OMIM:256810
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Cholestasis, Postprandial hyperglycemia, Hepatitis, Portal hypertension ORPHA:440713
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hepatic calcification, Hypoglycemia, Macrovesicular hepati... OMIM:608836
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Neonatal hypoglycemia OMIM:223360
Dend Syndrome
Hyperglycemia ORPHA:79134
Mirage Syndrome
Adrenal hypoplasia, Hypoplastic spleen, Hypergonadotropic hypogonadism, Adrenal insufficiency, Hy... OMIM:617053
Beta-Ketothiolase Deficiency
Hyperglycemia, Hepatomegaly, Hypoglycemia ORPHA:134
Addison Disease
Delayed puberty, Adrenal hypoplasia, Thymoma, Increased circulating ACTH level, Increased circula... ORPHA:85138
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:159
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Compensated hypothyroidism, Hypoglycemic seizures ORPHA:480864
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased response to growth hormone stimulation test, Decrease... ORPHA:90695
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoglycemia OMIM:618329
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Hypothyroidism OMIM:618005
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Premature thelarche, Hypoglycemia, Hypothyroidism OMIM:616878
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia OMIM:233600
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia OMIM:607143
Isolated Complex I Deficiency
Diabetes mellitus, Hepatomegaly, Hypoglycemia ORPHA:2609
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism ORPHA:445038
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Increased circulating reni... ORPHA:95409
Silver-Russell Syndrome
Recurrent hypoglycemia, Hyperhidrosis, Premature adrenarche, Insulin resistance, Precocious puberty ORPHA:813
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Mitochondrial Trifunctional Protein Deficiency 1
Cholestasis, Hypoketotic hypoglycemia OMIM:609015
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Congenital Disorder Of Glycosylation, Type Iie
Jaundice, Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:608779
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Cholestasis, Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia OMIM:617156
Mandibuloacral Dysplasia With Type A Lipodystrophy
Impaired glucose tolerance, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Insulin-resistant diab... OMIM:248370
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Microvesicular hepatic steatosis, Hypothyroidism ORPHA:66634
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Hypoparathyroidism, Diffuse hepatic steatosis, Hypoketotic hypoglycemia ORPHA:746
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Hypoglycemia OMIM:616007
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Recurr... ORPHA:293978
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Hepatic steatosis ORPHA:99901
Sotos Syndrome
Glucose intolerance, Neonatal hypoglycemia, Prolonged neonatal jaundice OMIM:117550
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Abnormality of the li... ORPHA:88673
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Recurrent hypoglycemia, Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Lipi... ORPHA:20
Glycogen Storage Disease Ic
Chronic pancreatitis, Delayed puberty, Hepatocellular carcinoma, Hepatomegaly, Hepatoblastoma, Hy... OMIM:232240
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Intrahepatic cholestasis, Glycosuria, Postprandial hyperglycemia, Hepatomegaly OMIM:227810
Glycerol Kinase Deficiency
Chronic pancreatitis, Adrenal insufficiency, Hypoglycemia, Adrenocortical hypoplasia OMIM:307030
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Neonatal hypoglycemia, Adrenal hypoplasia, Increased circulating ACTH level, Inc... ORPHA:289548
Tyrosinemia, Type I
Hepatocellular carcinoma, Pancreatic islet-cell hyperplasia, Hepatomegaly, Cirrhosis, Splenomegal... OMIM:276700
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Neonatal hypoglycemia, Adrenal hypoplasia, Increased circulating ACTH level, Inc... ORPHA:168558
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular carcinoma, Delayed puberty, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Hy... ORPHA:79259
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Neoplasm of the adrenal cortex, Hypoglycemia, Hashimoto thyroiditis ORPHA:109
Hereditary Fructose Intolerance
Reactive hypoglycemia, Hepatomegaly, Episodic hyperhidrosis, Jaundice ORPHA:469
Cholera
Hypoglycemia ORPHA:173
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis OMIM:616271
Leigh Syndrome
Hypoglycemia ORPHA:506
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Cholestasis, Recurrent hypoglycemia, Periportal fibrosis, Hyperglycemia, Microvesicu... OMIM:124000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:26793
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Shigellosis
Peritonitis, Cholestasis, Hypoglycemia, Splenic abscess ORPHA:810
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Hepatomegaly, Cholecystitis, Cholelithiasis, Hypoglycemia, Precocious puberty OMIM:301066
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Hyperhidrosis, Prema... ORPHA:96182
Leprechaunism
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... ORPHA:508
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Deeah Syndrome
Neonatal hypoglycemia, Hypohidrosis, Decreased circulating free T4 concentration, Hepatomegaly, D... OMIM:619004
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Fructose Intolerance, Hereditary
Jaundice, Glycosuria, Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypoglycemia OMIM:229600
Holoprosencephaly
Diabetes mellitus, Diabetes insipidus, Abnormality of the spleen, Panhypopituitarism, Anterior hy... ORPHA:2162
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Hypopituitarism, Anterior pituitary agenesis, Decreased response to growth hormo... ORPHA:95494
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hepatomegaly, Hypoglycemia ORPHA:3008
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia ORPHA:157
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hyperhidrosis, Hypoglycemia, Hepatic steatosis ORPHA:17
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Glycosuria, Diabetes mellitus, Hyperglycemia, Biliary atresia, Absent gall... OMIM:600001
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Hepatic steatosis ORPHA:228308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased serum testo... ORPHA:90794
Thyrotoxic Periodic Paralysis
Graves disease, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with toxic single t... ORPHA:79102
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hypoglycemia ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:252010
Alg12-Cdg
Recurrent hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:79324
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Neonatal hypoglycemia, Pseudohypoparathyroidism, Hepatomegaly, Hepatob... ORPHA:116
Simpson-Golabi-Behmel Syndrome
Pancreatic islet-cell hyperplasia, Hepatomegaly, Hepatoblastoma, Polysplenia, Splenomegaly, Hypog... ORPHA:373
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Bile duct proliferation, Cirrhosis, Portal hypertension, Hepatic steatosis, Hypoglyc... OMIM:613658
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia ORPHA:137675
Atypical Werner Syndrome
Neoplasm of the thyroid gland, Delayed puberty, Glycosuria, Hypogonadism, Diabetes mellitus, Abno... ORPHA:79474
Menkes Disease
Prolonged neonatal jaundice, Hypoglycemia ORPHA:565
Acute Liver Failure
Jaundice, Hepatitis, Adrenal insufficiency, Hepatic periportal necrosis, Hepatocellular necrosis,... ORPHA:90062
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Hypohidrosis, Increased circulating prolactin concentration, Central hypothyroid... ORPHA:293987
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Glycosuria ORPHA:3337
Scorpion Envenomation
Hyperglycemia, Acute pancreatitis, Hyperhidrosis, Glycosuria ORPHA:466677
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Neonatal hypoglycemia, Hepatomegaly, Hepatoblastoma, Adrenocortical ca... OMIM:130650
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Marburg Hemorrhagic Fever
Pancreatitis, Jaundice, Orchitis, Hypoglycemia ORPHA:99826
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Increased circulating ACTH level, Ele... OMIM:201750
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Microvesicular hepatic steatosis, Increased hepatocellular lipid dro... OMIM:220111
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Jaundice OMIM:617248
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:444077
Holoprosencephaly 1
Adrenal hypoplasia, Diabetes insipidus, Hypoglycemia OMIM:236100
Costello Syndrome
Hypoglycemia OMIM:218040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Sotos Syndrome
Neonatal hypoglycemia, Prolonged neonatal jaundice, 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.

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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