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Gene: Nuak2 MGI:1921387

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NUAK family, SNF1-like kinase, 2
Synonyms:
1200013B22Rik,  Snark

Order Alleles

IMPC Data Collections

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

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.

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 Nuak2 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 Nuak2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anencephaly 2
Anencephaly, Median cleft palate OMIM:619452
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes ORPHA:563609

The table below shows human diseases predicted to be associated to Nuak2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Obesity, Type II diabete... ORPHA:71529
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight OMIM:613375
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Insulin resistance OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:601820
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hyperlipidemia, Failure to thrive, Hypoalbuminemia, Hypercholesterole... OMIM:615863
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Obesity, Barrett esophagus, Gastroesophageal reflux ORPHA:99976
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, High palate, De... OMIM:616222
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Failure to thrive OMIM:614480
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, T-cell lymphoma, Acute myeloid leukemia, Elevated circulating C-reactive pr... ORPHA:158057
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Failure to thrive, Hype... ORPHA:99886
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Fail... ORPHA:2089
Mody
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Glucose intolerance, Ab... ORPHA:552
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Diabetes mellitus, Hypercholesterolemia OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus a... ORPHA:280356
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Esophageal varix, Hypercholesterolemia ORPHA:75234
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... ORPHA:324575
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Decreased circulating cortisol level, Reactive hypoglycemia, Villous at... OMIM:600955
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal circulating selenium concentration, Fasting hypoglycemia ORPHA:171706
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Inflammation of the large intestine, Increased circulating ferritin concent... OMIM:300635
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decrea... ORPHA:66628
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Increased C-peptide level, Decreased circulatin... ORPHA:79644
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decrea... ORPHA:179494
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased body weight, Hyperglycemia, Abdominal obesity, Increa... OMIM:615954
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Colitis OMIM:613101
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Colitis ORPHA:88643
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Failure to thrive, Proportionate tall stature, Diabetes m... ORPHA:528
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Polycystic ovaries, Insulin-resistant diabetes mellitus ORPHA:79085
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation OMIM:613027
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, High palate, Hyperglycemia, D... OMIM:262190
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis OMIM:177000
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Hodgkin lymphoma OMIM:620282
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Fasting hypoglycemia, Hepatocellular carcinoma, Impaired glucose tolerance,... ORPHA:2088
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Hodgkin lym... ORPHA:2298
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia OMIM:604484
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Abnormal tongue morphology, High palate, Insulin resistan... ORPHA:2457
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hepatocellular carcinoma, Hyperargininemia, Hyp... OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Joubert Syndrome 15
Exencephaly OMIM:614464
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Cholesterol gallstones, H... ORPHA:209902
Mitchell-Riley Syndrome
Annular pancreas, Meckel diverticulum, Hyperbilirubinemia, Pancreatic hypoplasia, Intestinal malr... OMIM:615710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Childhood-onset tru... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Childhood-onset tru... ORPHA:71526
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level OMIM:618856
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Hypoketoti... ORPHA:276580
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Perianal abscess, Increased circulating chylomicron concentration, Decrease... ORPHA:444490
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Fasting hypoglycemia, Ketotic hypoglycemia, Increas... ORPHA:79240
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide l... ORPHA:276556
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia ORPHA:363400
Smith-Magenis Syndrome
Hypertriglyceridemia, Velopharyngeal insufficiency, Increased body weight, Hypercholesterolemia OMIM:182290
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas... ORPHA:276575
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Fasting hypoglycemia, Increased body weight, Esopha... ORPHA:264580
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Insulin resistance, Diabetes mellitus, Cryptorchidism OMIM:615381
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin resistance, Pol... ORPHA:435660
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Maternal diabetes, Hyperuricemia, Insulin resistance, Polycystic ovaries, D... ORPHA:79083
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, High palate OMIM:618010
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia ORPHA:369
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Hypercalcemia, Recurrent hypoglycemia,... ORPHA:94086
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia, High palate, Pyloric stenosis, Obesit... ORPHA:96184
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Insulin-resistant diabetes mellitus ORPHA:435651
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young, High palate ORPHA:254531
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Lymphoma, Astro... ORPHA:79086
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Gaisböck Syndrome
Peptic ulcer, Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Di... ORPHA:90041
Seckel Syndrome 10
Hypertriglyceridemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circula... OMIM:617253
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Pylor... OMIM:613327
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia, Cryptorchidism OMIM:617575
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... OMIM:205400
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Subcutaneous panniculitis-like T-cell lymphoma, Increased circulating ferri... OMIM:618398
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Werner Syndrome
Hypertriglyceridemia, Meningioma, Elevated hemoglobin A1c, Osteosarcoma, Diabetes mellitus OMIM:277700
Smith-Magenis Syndrome
Hypertriglyceridemia, Gastroesophageal reflux, Obesity, Cleft palate, Failure to thrive in infanc... ORPHA:819
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Insulin resistance, Polycystic ovaries, Diabetes mellitus ORPHA:2348
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Carcinoma, Decreased testicular size, Hypercholesterolemia, Laryngeal carci... OMIM:610644
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hyp... ORPHA:263455
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Hyperlipidemia, Overgrowth, Medulloblastoma, Functional intes... ORPHA:199276
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:98855
Temple Syndrome
Decreased response to growth hormone stimulation test, Obesity, Bifid uvula, Type II diabetes mel... ORPHA:254516
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Hypokalemia, Adrenocortical carcinoma, Increased body weight, Ad... ORPHA:1501
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hyperglycemia, T... OMIM:151660
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Type II diabetes mellitus, Goiter, Diabetes mellitus, Small for gestationa... OMIM:274300
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Pyloric stenosis, Hypoalbuminemia, Smal... OMIM:256300
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increase... OMIM:615830
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervical spina bifida ORPHA:63260
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:261
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Protein-losing enteropathy, Hypocalcemia, Hyponatremia, Hematochezia, Hypom... OMIM:618183
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:176270
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Macronodular adrenal hyperplasia, Increased body weight, Hyperlipidemia, Renal cell carcinoma, Pr... ORPHA:189427
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoplasia of the thymus OMIM:619313
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Microtriplication 11Q24.1
Obesity, Cleft palate, Hyperlipidemia ORPHA:289522
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemic seizures, Hepatocellular adenoma, Xanthelasma, Hypercholestero... ORPHA:79259
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Enterocolitis, Increased circulating ferritin concentration, Colitis OMIM:619802
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia, Adrenocortical adenoma, Postprandial hyper... ORPHA:681
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Failure to thrive, Hyponatremia... OMIM:603553
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Increased body mass index OMIM:614450
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Cryptorchidism, Diabetes mellitus OMIM:610628
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Hepatocellular carcinoma, Obesity, Diabetes mellitus, Neoplasm of the liver, Over... ORPHA:69663
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Colitis ORPHA:540
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia OMIM:619737
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Dysphagia, We... ORPHA:97286
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Morgagni-Stewart-Morel Syndrome
Obesity, Diabetes mellitus, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism, Gastroesophageal reflux ORPHA:589905
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Diabetes mellitus, Pituitary hypothyroidis... OMIM:614963
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Cachexia, Esophageal varix, Failure... ORPHA:275761
Aromatase Deficiency
Tall stature, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Eunuchoi... ORPHA:91
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mellitus ORPHA:2234
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia OMIM:615453
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, High palate, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resist... OMIM:608612
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mel... OMIM:616026
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Neonatal hypoglycemia, High palate, Failure to thrive, Failure to thrive in... OMIM:619418
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Insulin resistance, Polycystic ova... ORPHA:280365
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased response to growth hormone stimulat... ORPHA:470
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Hyperglycemia, Ovarian cyst, Po... OMIM:246200
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, High, narrow palate, Hypoparathyroidism, Gastroesophageal reflux, Abnormal ... ORPHA:369837
Atypical Werner Syndrome
Hypertriglyceridemia, Neoplasm of the skin, Fasting hyperinsulinemia, Hyperinsulinemia, Ovarian n... ORPHA:79474
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Hypoglycemia, Cryptorchidism, Small for gestational age OMIM:307030
Anencephaly 2
Anencephaly, Median cleft palate OMIM:619452
Cholestasis-Lymphedema Syndrome
Acholic stools, Gastrointestinal hemorrhage, Multiple lipomas, Hyperlipidemia ORPHA:1414
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration, Necroti... OMIM:619573
Abcd Syndrome
Total intestinal aganglionosis, Large for gestational age, Aganglionic megacolon OMIM:600501
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Anal atresia OMIM:175700
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary carcin... ORPHA:363618
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hepatocellular car... ORPHA:465508
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus, Insu... OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Failure to thrive OMIM:617591
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Aganglionic megacolon, Abnormality of the ... ORPHA:110
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Hypertriglyceridemia, High palate, Cryptorchidism, Long uvula, Diabetes mellitus ORPHA:536532
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Elevated hemoglo... OMIM:269700
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Diabetes mellitus, Elevated circulating creatine kinase concentration OMIM:610717
H Syndrome
Decreased testicular size, Diabetes mellitus, Hypertriglyceridemia ORPHA:168569
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Biliary hyperplasia, Abnormal circulating fatty-acid concentratio... ORPHA:567983
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Obesity, Nephroblastoma, Streak ovary, Gonadoblastoma OMIM:194072
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Tall stature, Increa... ORPHA:1359
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Failure to thrive, Dysphagia, Insulin resistanc... OMIM:606721
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, High palate, Impaired glucose tolerance, Hyperlipidemia, Hyperglyce... OMIM:248370
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Short Syndrome
Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Small for gestational age, ... OMIM:269880
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia, Hyperbi... OMIM:227810
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Abnormal circulating creatine kinase concentration, Pine... ORPHA:98908
Sotos Syndrome
Narrow palate, High, narrow palate, Tall stature, Neonatal hypoglycemia, Glucose intolerance, Gas... OMIM:117550
Beta-Ketothiolase Deficiency
Hyperuricemia, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Glycogen Storage Disease Ia
Xanthelasma, Fasting hypoglycemia, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia, Hypog... OMIM:232200
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypercholesterolemia, Hyperglycemia ORPHA:90065
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal obesity, Glucose i... OMIM:219090
19P13.12 Microdeletion Syndrome
Obesity, Cleft palate, Hyperlipidemia, Cryptorchidism ORPHA:254346
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Perlman Syndrome
Distal ileal atresia, Large for gestational age, Nephroblastomatosis, Renal hamartoma, Volvulus, ... OMIM:267000
Glycogen Storage Disease Ib
Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia, Inflammation of the large i... OMIM:232220
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Glycogen Storage Disease Ic
Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia, Inflammation of the large i... OMIM:232240
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal circulating thyro... ORPHA:99832
Leprechaunism
Rectal prolapse, Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Hypokalemia,... ORPHA:508
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Abnormality of the gastrointest... ORPHA:439232
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Hyperglycemia, Hypoglycemia, Diabet... OMIM:609069
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Fasting hyperinsulinemia, Hypokalemia, High palate, Furrowed tongue, Impair... ORPHA:769
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele OMIM:600145
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Geographic tongue, Obesity, ... ORPHA:247353
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Adrenal pheochromocytoma, Renal cell carcinoma, Gastrointestinal stroma tumor, Para... OMIM:115310
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kina... ORPHA:228308
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Hyperlipidemia, Adrenocorticotropic hormon... ORPHA:293987
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... OMIM:256040
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Hyperlipidemia, Failure to thrive, Lymphoproliferative disorder, S... ORPHA:1830
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Isolated Sedoheptulokinase Deficiency
Steatorrhea, Postprandial hyperglycemia ORPHA:440713
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Papillary thyroid carcinoma, Failure to thrive, H... OMIM:118450
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration, Dec... ORPHA:157
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia ORPHA:167
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, High palate, Breast aplasia ORPHA:90153
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Glucose intolerance, High palate, Elevated hemoglobin A1c OMIM:619127
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Failure to thrive, Glycosuria, Hyperglycemia, Weight loss, Neonatal insuli... ORPHA:99885
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adr... ORPHA:99889
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Microcolon, Intestinal malrotation, Failure to thrive, Glycosuria, Diabete... OMIM:600001
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Gastroesophageal reflux, Increased body weight, Decreased testicular size,... ORPHA:398069
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l... ORPHA:79102
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Cushing Disease
Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pituitary corticotropic c... ORPHA:96253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Hyperlipidemia ORPHA:90154
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia OMIM:620423
Beckwith-Wiedemann Syndrome
Tall stature, Rhabdomyosarcoma, Large intestinal polyposis, Neoplasm, Facial hemangioma, Abnormal... ORPHA:116
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypoplasia of the thymus, Failure to thrive, Dysphagia, Cryptorchidism, Sma... OMIM:264090
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Failure to thrive, S... ORPHA:3455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Failure to thrive, Hyperglycemia, Recurrent hypoglycemia, Hypoglycemia OMIM:124000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, High palate, Glos... ORPHA:444077
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis ORPHA:567546
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hyperammonemia, Hyperglycemia, Dysphagia, Hypoglycemia, Anteriorly placed anus... OMIM:220111
Primary Triglyceride Deposit Cardiomyovasculopathy
Diabetes mellitus, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperlipidemia, Decrease... ORPHA:3464
Alström Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Ga... ORPHA:64
Woodhouse-Sakati Syndrome
Decreased testicular size, Diabetes mellitus, Hyperlipidemia OMIM:241080
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia, Increased ... ORPHA:466677
Fabry Disease
Abnormal circulating lipid concentration, Achalasia, Hyperlipidemia ORPHA:324
Hellp Syndrome
Increased body weight ORPHA:244242
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes ORPHA:563609

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 Nuak2

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 Nuak2.

No publications found that use IMPC mice or data for Nuak2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nuak2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nuak2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nuak2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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