Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MAP/microtubule affinity regulating kinase 3
Synonyms:
C-TAK1,  ETK-1,  A430080F22Rik,  1600015G02Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mark3 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 associated to Mark3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Visual Impairment And Progressive Phthisis Bulbi
OMIM:618283

The table below shows human diseases predicted to be associated to Mark3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... ORPHA:314811
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... OMIM:262400
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adip... ORPHA:79085
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre... ORPHA:552
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adi... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level, Diabetic ketoac... OMIM:615238
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Obesity, Type II dia... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Hepatomegaly, Pancreatitis, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Diarrhea 13
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, Re... OMIM:620357
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:369
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:619048
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss... OMIM:604367
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:617950
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, Hypoglycemia ORPHA:67048
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... OMIM:608600
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosis, Prolonged neonatal jaundice, H... OMIM:231100
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonad... ORPHA:79237
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hypoglycemia, Elevated circulating hepatic transaminase concentration, ... OMIM:615160
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:246900
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... OMIM:300148
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:618958
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly... OMIM:613027
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia, Elevated circulating hepatic transaminase concentration ORPHA:289504
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Neonatal hypoglycemia, Decreased body weight, Hypoglycemia ORPHA:231140
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619386
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency ORPHA:35
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Reduced phosphoenolpyruvate carboxykinase activity in culture... OMIM:261680
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Ab... ORPHA:631
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age ORPHA:231147
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypogly... ORPHA:2394
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Weight loss, Hypoglycemi... ORPHA:2126
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypoglycemia... OMIM:306000
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia, Reduced hepatic pho... OMIM:261750
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hepatomegaly, Pancreatitis, Increased facial adipose tissue, Loss of subcutaneous ad... ORPHA:280365
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Glycosuria, Failur... ORPHA:2089
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Failure to thri... OMIM:617049
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Glucocorticoid Deficiency 1
Abnormal circulating renin, Failure to thrive, Decreased circulating cortisol level, Abnormal cir... OMIM:202200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp... OMIM:617093
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Failure to thrive, Neonatal death, E... OMIM:245400
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Reduced subcutaneous adipos... ORPHA:363400
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism ORPHA:163693
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... OMIM:614480
Classic Galactosemia
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... ORPHA:79239
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Loss of truncal subcutaneous adipose tissue, Increased intramuscu... OMIM:151660
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hepatic failure ORPHA:664
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepatic steatosis, Decreased carnitine lev... OMIM:212140
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Failure to thrive, Adip... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Loss of... OMIM:615381
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Elevate... OMIM:620454
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... ORPHA:254516
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:616483
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase con... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... ORPHA:71212
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Po... ORPHA:79319
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... ORPHA:199296
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Decreased body weight, Hypothyroidism, Dorsocervical fat pad, Hypoglycemia, Diab... ORPHA:391408
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Flexion contracture of toe, Hypogonadotropic hypogonadism, Finger joint contracture ORPHA:48431
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:605911
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic failure ORPHA:156
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615453
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, C... ORPHA:69663
Aromatic L-Amino Acid Decarboxylase Deficiency
Increased circulating prolactin concentration, Failure to thrive, Hypoglycemia, Joint contracture ORPHA:35708
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-chai... OMIM:201450
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level, Neonatal death OMIM:618839
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Cog8-Cdg
Failure to thrive, Hypoglycemia, Elevated circulating hepatic transaminase concentration ORPHA:95428
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:620609
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:227810
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Small for gestational age ORPHA:231137
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Failure to thrive... OMIM:609069
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Hypoketotic hypoglycemia,... OMIM:231530
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... ORPHA:2457
Laron Syndrome
Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrine system ORPHA:633
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circ... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Acute hepatic steatosi... OMIM:210200
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Hypogonadism, Insulin resistance, Hypoglycemia, Truncal obesity, Small for ges... ORPHA:73272
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia OMIM:618120
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Propionic Acidemia
Hepatomegaly, Pancreatitis, Propionyl-CoA carboxylase deficiency, Failure to thrive, Hypoglycemia OMIM:606054
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cholestasis, F... OMIM:609015
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:79240
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorticotropic h... ORPHA:199299
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Panniculitis, Generalized lipodystrophy, Acute pancrea... ORPHA:79086
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... OMIM:131100
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Elevated alkaline pho... OMIM:615363
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Malonyl-Coa Decarboxylase Deficiency
Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts, Hypoglycemia OMIM:248360
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Neonatal death, Elevated circulating alanine aminotransferase concentration, Elevat... OMIM:620300
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Glutaric Acidemia I
Failure to thrive, Hypoglycemia, Hepatomegaly, Reduced peroxisomal glutaryl-CoA oxidase activity OMIM:231670
Glycogen Storage Disease Ixd
Hypoglycemia, Reduced muscle phosphorylase kinase activity OMIM:300559
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia, Small for gestational age, Inguinal hernia ORPHA:397590
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hepatocellular carcinoma, Small for gestat... OMIM:180860
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Decreased... ORPHA:90790
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... OMIM:608594
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Smith-Kingsmore Syndrome
Large for gestational age, Hypoglycemia, Umbilical hernia OMIM:616638
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... OMIM:616113
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Neonatal hypoglycemia, Splenomegaly OMIM:619046
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Increased circu... ORPHA:99901
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
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
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Failure ... OMIM:613327
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:608836
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Neonatal death, Hypoglycemia, He... OMIM:231680
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Decreased circulating dehydroepiandrosterone concent... ORPHA:361
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micr... OMIM:619418
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Small for gestational age OMIM:618253
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepa... OMIM:602579
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:251000
Hypotonia-Cystinuria Syndrome
Failure to thrive, Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, ... OMIM:606407
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E... OMIM:124000
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... OMIM:269700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Hepatomegaly, Jaundice, Elevated circulating alanine aminotransferase c... OMIM:608779
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypothyroidism, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Pancreatitis, Reduced branched-chain alpha-keto acid dehydrogenase activity in cult... OMIM:248600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose t... OMIM:248370
Fructose-1,6-Bisphosphatase Deficiency
Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia, Hepatomegaly OMIM:229700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased serum testo... ORPHA:90791
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:26791
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... ORPHA:769
Immunodeficiency 10
Amelogenesis imperfecta, Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:612783
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia, Elbow contracture, Inguinal hernia, Umbilical hernia OMIM:620275
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Hsd10 Disease, Infantile Type
Hypoglycemia, Abnormal circulating enzyme concentration or activity ORPHA:391428
Glycogen Storage Disease Ia
Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati... OMIM:232200
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Reduced hepatic D-glycerate kinase activity OMIM:220120
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Failure to thrive, Neonatal death, Hypoglycemia, Small for gestational age OMIM:619055
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia, Failure to thrive, Cholelithiasis OMIM:620646
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Hepatomegaly, Failure to thrive OMIM:251110
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:276700
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Failure to thrive, Hypoglycemia, Joint contracture OMIM:618005
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Chronic hepatic failure, Failure to th... ORPHA:746
Bachmann-Bupp Syndrome
Large for gestational age, Hypoglycemia OMIM:619075
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Hepatic stea... OMIM:201475
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypoglycemia, Hypo... ORPHA:159
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Increased circulatin... ORPHA:508
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia, Camptodactyly OMIM:301032
Isolated Complex I Deficiency
Failure to thrive, Hypoglycemia, Diabetes mellitus, Hepatomegaly ORPHA:2609
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Elevated tissue non-specific alkaline phosphatase, Hype... ORPHA:785
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia, Weight loss ORPHA:134
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:619355
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Glycogen Storage Disease Ib
Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati... OMIM:232220
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Hepatomegaly, Elevated circulating alanin... OMIM:246450
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... OMIM:615577
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Slender build OMIM:617600
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Mirage Syndrome
Adrenal hypoplasia, Decreased body weight, Hypergonadotropic hypogonadism, Hypoplastic spleen, Hy... OMIM:617053
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia, Propionyl-CoA carboxylase deficiency OMIM:210210
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Reni Syndrome
Hypothyroidism, Hypoglycemia, Hypogonadism, Adrenal insufficiency OMIM:617575
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Lipoma, Cachexia, Neoplasm of the adrenal cortex, Hashimoto thyroiditis, Hypog... ORPHA:109
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Reduc... OMIM:229600
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... ORPHA:813
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia, Elevated circulating hepatic transaminase concentration, Com... ORPHA:480864
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal adipose tissue morphology, Abno... ORPHA:79324
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating renin level, F... ORPHA:95409
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... ORPHA:445038
Addison Disease
Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Hypoglycemia, In... ORPHA:85138
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... ORPHA:20
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypoglycemia, Small for gestational age OMIM:607143
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Hepatosple... ORPHA:1333
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly, Umbilical hernia, ... OMIM:301066
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Elevated circulating hepatic transaminase concentration, Premature thelarche,... OMIM:616878
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta... ORPHA:131
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym... ORPHA:17
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Leigh Syndrome
Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentration or act... ORPHA:506
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia, Small for gestational age, Umbilical hernia OMIM:614501
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Shigellosis
Splenic abscess, Cholestasis, Peritonitis, Failure to thrive in infancy, Hypoglycemia, Hepatic fa... ORPHA:810
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Congenital foot contractures, Abnormal circulating enzyme concentration or... ORPHA:565624
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Incre... ORPHA:79259
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hep... ORPHA:66634
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Sotos Syndrome
Increased body weight, Prolonged neonatal jaundice, Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia ORPHA:457485
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell h... OMIM:267000
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Hypoglycemia, Hepatomegaly OMIM:233600
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple... ORPHA:171
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Elevated circulating hep... OMIM:203800
Glycerol Kinase Deficiency
Chronic pancreatitis, Reduced glycerol kinase activity in cultured fibroblasts, Adrenocortical hy... OMIM:307030
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration, Reduced circulating dopamine ... OMIM:223360
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture OMIM:616271
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carnitine O-palmitoyltransferase 2 activit... ORPHA:157
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:289548
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Reduced circulating aldolase concentration, Chronic hepatic failure, Reac... ORPHA:469
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... OMIM:616007
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:168558
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia ORPHA:457279
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Hypoglycemia, Hyperglycemia OMIM:620423
Holoprosencephaly
Congenital diaphragmatic hernia, Anterior hypopituitarism, Diabetes insipidus, Panhypopituitarism... ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Elevated circulating alkaline phosphatase concentration OMIM:620451
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Hypoglycemia, Hepatic failure OMIM:252010
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Jaundice OMIM:615751
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating ACTH level, Increased circulating androstenedione concentration, Neonatal h... ORPHA:90794
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carnitine O-palmitoyltransferase 2 activit... ORPHA:228308
Menkes Disease
Inguinal hernia, Prolonged neonatal jaundice, Umbilical hernia, Atypical scarring of skin, Hypogl... ORPHA:565
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia, Flexion contracture, Scarring alopecia of scalp ORPHA:35173
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:3008
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
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, ... ORPHA:116
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste... ORPHA:404454
Congenital Syphilis
Prolonged neonatal jaundice, Hypoglycemia, Pancreatitis, Hepatosplenomegaly ORPHA:499009
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Glycogen Storage Disease Ic
Delayed puberty, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Hy... OMIM:232240
Oculodentodigital Dysplasia
Camptodactyly of finger, Abnormal dental enamel morphology, Hypoglycemia, Umbilical hernia ORPHA:2710
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypoglycemia, Jaundice ORPHA:79282
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neonatal hypoglycemia, Jaundice, Neonatal death OMIM:617248
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:137675
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Abnormal circulating enzyme concentration or activity ORPHA:572798
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Hepatomegaly, Inguinal hernia, Omphalocele, Camptodactyly of fin... ORPHA:373
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Abnormal circulating enzyme concentration or activity ORPHA:25
Acute Liver Failure
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic periportal necrosis, H... ORPHA:90062
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Failure to thrive, Hyperglycemia, Small for ge... OMIM:220111
Cholera
Hypoglycemia ORPHA:173
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Joint contracture of the hand, Elevated seru... OMIM:201750
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Omphalocele, Hepatoblastoma, Pancreatic hyperplasia, Adrenoc... OMIM:130650
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Neurooculorenal Syndrome
Decreased circulating ACTH concentration, Central hypothyroidism, Decreased circulating cortisol ... OMIM:620305
Costello Syndrome
Failure to thrive, Hypoglycemia, Achilles tendon contracture OMIM:218040
Marburg Hemorrhagic Fever
Hypoglycemia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis ORPHA:99826
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Neonatal hypoglycemia, Slender build ORPHA:457359
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Holoprosencephaly 1
Hypoglycemia, Adrenal hypoplasia, Diabetes insipidus OMIM:236100
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Sotos Syndrome
Neonatal hypoglycemia, Ankle flexion contracture, Inguinal hernia, Bilateral camptodactyly, Hypot... ORPHA:821
Visual Impairment And Progressive Phthisis Bulbi
OMIM:618283

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 Mark3

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 Mark3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genomic variants within chromosome 14q32.32 regulate bone mass through MARK3 signaling in osteoblasts. The Journal of clinical investigation (April 2021) Mark3tm1a(KOMP)Mbp PMC8011892
Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module. Cell systems (November 2016) Mark3tm1a(KOMP)Mbp PMC5269473

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mark3tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Mark3tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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