Gene Summary

Name:
mitogen-activated protein kinase 13
Synonyms:
Serk4,  p38 delta MAP kinase,  SAPK4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Mapk13em1(IMPC)Hmgu HOM Early adult 3.41×10-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Mapk13 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.

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

The table below shows human diseases predicted to be associated to Mapk13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Azotemia, Familial
Azotemia OMIM:109160
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... ORPHA:314811
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:324575
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71526
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... OMIM:262700
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Abnormal cir... ORPHA:280356
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hemochromatosis Type 2
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... ORPHA:79230
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increased hepatic glycogen content OMIM:232700
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia OMIM:306000
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Pancreatic Agenesis 1
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... OMIM:260370
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Riboflavin Deficiency
Hypoglycemia OMIM:615026
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hepatomegaly, Hypoglycemia ORPHA:67046
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Cirrhosis, Hepatic steatos... OMIM:604367
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... OMIM:246200
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Hyp... ORPHA:79237
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia ORPHA:2849
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis OMIM:602579
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism,... ORPHA:79319
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Jaundice OMIM:617156
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperinsulinemia ORPHA:363400
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Increased circulating ACTH level, Failure to thrive, Decreased circulatin... OMIM:202200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age, Hyperhidrosis ORPHA:231147
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Cirrhosis, He... ORPHA:528
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia, Congenital hypothyroidism, Precocious puberty OMIM:614736
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601165
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Small for gestational age, Neonatal hypoglycemia, Hyperhidrosis, Decreased body weight ORPHA:231140
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Tyrosinosis
Hypertyrosinemia OMIM:276800
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Congenital Isolated Acth Deficiency
Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insuf... ORPHA:199296
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Cirrhosis, Hepatic steatos... ORPHA:79086
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Failure to thrive, Abnormality of the hypothalamus-pituitary ax... ORPHA:95496
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hypoglycemia, Hepatic fibrosis, Cirrhosis, Cholestasis, Prolonged neonat... OMIM:231100
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Neo... ORPHA:71212
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... OMIM:203800
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Failure to thrive ORPHA:163693
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Insulin resistance ORPHA:2457
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... ORPHA:95619
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Recurrent hypo... OMIM:212140
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Failure to thrive, Splenomegaly, Hepatic steatosis, Hyperinsuli... OMIM:613327
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hepatic steatosis, Acute pancre... OMIM:151660
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261680
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypoglycemia, Increased circulating cortisol level, Insulinoma, Thyroid a... OMIM:131100
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Insulin resistance, Failure to thrive... ORPHA:508
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease ORPHA:5
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Weight loss, Glycosuria, Neonatal insuli... ORPHA:99885
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Diabetes mellitus OMIM:609069
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hypogonadism, Hyper... ORPHA:3464
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... OMIM:608594
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Insulin-resistant diabetes mellitus, Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic b... OMIM:226980
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... OMIM:269700
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice OMIM:616483
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Pancreatic... OMIM:276700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondria... OMIM:251880
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Hypoglycemia, Decrease... OMIM:615577
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Hypoglycemia, Failure to thrive, Jaundice OMIM:617049
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, Hepatitis, Decreased circulatin... ORPHA:199299
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin system, Failure to thrive, Jaund... ORPHA:90790
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level OMIM:618839
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... ORPHA:786
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Atypical Werner Syndrome
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... ORPHA:79474
Sheehan Syndrome
Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decreased circulat... ORPHA:91355
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased HDL cholesterol concentration, Decreased... ORPHA:85450
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic ... ORPHA:226307
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hypoglycemia... ORPHA:85138
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Obesity, Glucose intol... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Obesity, Glucose intol... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Obesity, Glucose intol... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Obesity, Glucose intol... ORPHA:99226
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... ORPHA:90695
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Jaundice OMIM:228100
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hepatoblastoma, Chronic pancreatitis, Delay... OMIM:232240
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:267000
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Hepatoblastoma, Splenomegaly, Pancreatic islet-cell hyperplasia, Poly... ORPHA:373
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Greenberg Dysplasia
Pancreatic islet-cell hyperplasia, Hepatomegaly, Hepatosplenomegaly, Hepatic calcification OMIM:215140
Alström Syndrome
Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration, Primary ... ORPHA:64
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Pmm2-Cdg
Hepatic fibrosis, Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Abnormal ... ORPHA:79318
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... ORPHA:91500
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hepatoblastoma, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia OMIM:312870

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 Mapk13

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 Mapk13.

No publications found that use IMPC mice or data for Mapk13.

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MGI Allele Allele Type Produced
Mapk13em1(IMPC)Hmgu Exon Deletion Mice
Mapk13tm278040(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mapk13tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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