Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
helicase with zinc finger 2, transcriptional coactivator
Synonyms:
BC006779

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 Helz2 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 Helz2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Severe sho... ORPHA:436182
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Gro... ORPHA:171706
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature, Elevated hepatic transaminase, Hype... OMIM:614480
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatic failure, Hepatomegaly, Fa... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Type ... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Diabetes mellitus,... OMIM:610717
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... ORPHA:79084
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Splenomegaly, He... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hepatic steatosis, Hyperinsulinemia, Insulin-resistan... ORPHA:280356
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Intrauterine growth retardation,... OMIM:617156
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Growth delay, Elevated hepatic transaminase, Hy... OMIM:306000
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... ORPHA:79085
Mody
Glycosuria, Exocrine pancreatic insufficiency, Large for gestational age, Neonatal hypoglycemia, ... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Decreased adiponectin level, Hypertriglyc... OMIM:615238
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Int... OMIM:619048
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71526
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Hepatic failure, Impaired glucon... OMIM:261680
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Intrauterine growth retardation ORPHA:26792
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Typ... OMIM:604367
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Intrauterine growth retardation, Decreased liver function, Failure to thrive, ... OMIM:617093
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Decreased adiponectin level, Insulin-resistant d... ORPHA:435651
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Diabetes mellitus, Abdominal obesity OMIM:615980
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Hepatomegaly, ... OMIM:212140
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hypertrigl... ORPHA:71529
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... ORPHA:435660
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Hypercholesterolemia OMIM:616829
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia, Cirr... ORPHA:363400
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Short statur... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Congenital Generalized Lipodystrophy
Hepatic steatosis, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Hyperchol... ORPHA:528
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Adrenal calcification, Periportal fibrosis, Increased hepatic ech... OMIM:278000
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... ORPHA:179494
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Insulin resistance, Hepatomegaly, Elevated hepatic transaminase, Diabetes mell... OMIM:615381
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Hypoketotic hypoglycemia, Elevated hep... OMIM:255120
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Intrauterine growth retardation,... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Growth delay, Hepatic necrosis, Hypoketotic hypoglycemi... OMIM:231530
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Neoplasm of the liver, Abnormality of the peri... ORPHA:2126
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Biliary cirrhosis, Fasting hypoglycemia, Weight loss, Insulin ... ORPHA:2298
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... ORPHA:264580
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Failure to thrive, Portal fibrosis, Ele... OMIM:614300
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatoc... ORPHA:370
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Small for gestational a... ORPHA:79237
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Hyperlipidemia... ORPHA:444490
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Short stature, Elevated h... OMIM:619013
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Insulin-resistant diabetes mel... ORPHA:79083
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... OMIM:220111
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Obesity, Hyperinsulinemia ORPHA:329249
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency, Hepatic steatosis OMIM:300270
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Type II diabetes mellitus, P... ORPHA:90970
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Abdominal obesity, Increased urinary cortisol level, Growth de... ORPHA:189439
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Insuli... ORPHA:79086
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Ddost-Cdg
Hepatic steatosis, Primary hypothyroidism, Short stature, Failure to thrive, Elevated hepatic tra... ORPHA:300536
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Diabetes mellitus, Hypertrigly... ORPHA:2348
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transam... ORPHA:42
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic h... OMIM:602579
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic ste... OMIM:600649
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Alstrom Syndrome
Hypothyroidism, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogo... OMIM:203800
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Fa... ORPHA:79303
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Chr... OMIM:614921
Interstitial Lung And Liver Disease
Hypothyroidism, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:615486
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Adrenomyodystrophy
Short stature, Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Failure to t... OMIM:613327
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... ORPHA:567983
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Growth delay, Failure to thrive, Elev... ORPHA:71
Mpi-Cdg
Hypothyroidism, Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, H... ORPHA:79319
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:369840
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Intrauterine growth retardation, Cholesta... ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Hepatomegaly, Short stature, Failure to thrive, Diabetes melli... OMIM:616263
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Intrauterine growth retardation, Hyperinsulinemia,... ORPHA:1227
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Insu... OMIM:151660
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperinsulinemia, Cholestasis, Pancreatic ... OMIM:246200
Gracile Syndrome
Hepatic steatosis, Intrauterine growth retardation, Cholestasis, Elevated hepatic iron concentrat... ORPHA:53693
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Splenomegaly, Hyperinsulinemia ORPHA:66518
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic tran... ORPHA:228305
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Hepatomegaly, Hepatocellular nec... OMIM:201475
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Citrullinemia Type Ii
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transamin... ORPHA:247585
Short Stature, Dauber-Argente Type
Short stature, Fasting hyperinsulinemia, Postnatal growth retardation OMIM:619489
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Growth delay, Eunuchoid habitus, ... ORPHA:91
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase OMIM:212138
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Chronic hepatitis, Portal inflammation, ... ORPHA:101330
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Small for gestational age, Decreased serum testosterone concentration, Decreas... ORPHA:2959
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Jaundice OMIM:231680
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Eleva... ORPHA:348
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Decreased adiponectin level, D... ORPHA:280365
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resi... OMIM:608594
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Obesity, Hyperinsulinemia ORPHA:791
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Acute hepatic failure, Failure to thrive, Elevated he... ORPHA:99901
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Obesity, Short stature, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, C... ORPHA:298
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resi... OMIM:269700
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis, Growth delay, Elevated hepatic transami... ORPHA:445038
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Microvesicular hepatic steatosis, Intrauterine growth retardation OMIM:610198
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Hyperchol... ORPHA:79259
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Short stature,... ORPHA:98908
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Decreased liver functio... OMIM:124000
Monosomy 13Q34
Growth delay, Hepatic steatosis, Obesity, Insulin resistance ORPHA:96168
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Intrauterine growth retardation, Obesity, Prec... ORPHA:254346
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic steatosis, Portal hypertension, Acute pancreatitis, Hepatosplenomegaly, I... OMIM:619487
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Elevated hepatic transami... ORPHA:79322
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypoparathyroidism, Chronic ... ORPHA:746
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Thyroiditis, Elevated... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic steatosis, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase... OMIM:212065
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Hepatic steatosis ORPHA:52430
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Decreased liver function, Failure to thrive, Elevated hepa... OMIM:618329
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Intrauterine growth reta... ORPHA:66634
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Decreased liver function, Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridem... ORPHA:98907
Pearson Syndrome
Glycosuria, Adrenal insufficiency, Hypothyroidism, Exocrine pancreatic insufficiency, Hepatic fai... ORPHA:699
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Hepatomegaly, Hypoketotic hypoglycemia, Hepat... ORPHA:228308
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Jaundice, Failure to thrive, Elevated ... OMIM:229600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Nonketotic hypoglycemi... OMIM:608836
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Primary adrenal insufficiency, Hepatosplenomeg... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Rett Syndrome
Cholecystitis, Failure to thrive, Increased serum leptin ORPHA:778
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Prolonged neonatal jaundice, Po... OMIM:619377
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Delayed puberty, Insulin-... ORPHA:79474
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Hypothyroidism, Hepatic steatosis, Jaundice, Diabet... ORPHA:93111
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly, Fail... OMIM:220110
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Jaundice OMIM:228100
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Hypoglycemia, Portal hypertension, Intrauterine growth retardation, Cholestasi... OMIM:613658
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Failure... OMIM:203700
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... ORPHA:20
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Postnatal growth retardati... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
D-Bifunctional Protein Deficiency
Hepatic steatosis, Primary adrenal insufficiency, Cholestasis, Bile duct proliferation, Splenomeg... OMIM:261515
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Abetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase... ORPHA:14
Leprechaunism
Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, Central hypoth... ORPHA:508
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Intrauterine growth retardation, Cholestasis, Hypercholest... ORPHA:247598
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism OMIM:619273
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Hyperlipidemia, Intrauter... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Hyperlipidemia, Intrauter... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Hyperlipidemia, Intrauter... ORPHA:99228
Monosomy X
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Hyperlipidemia, Intrauter... ORPHA:99226
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Growth delay, Failure to thrive, Elevated hepatic ... ORPHA:17
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Intrauterine growth retardation, Hepatomegaly, Short stature, Elevated hepatic... OMIM:615356
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:619573
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, Postnatal growt... OMIM:619127
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:617303
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Small for gestational age, Splenomegaly, Hepatomegaly, Nodular ... ORPHA:404454
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Hepatic steatosis, Intrauterine growth retardation, Slender build,... ORPHA:3455
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Short stature, Growth delay, Failure to thrive OMIM:614008
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Intrauterine growth retardation, Short stature, Abdominal obesity, Hypoplasia ... OMIM:619321
1P36 Deletion Syndrome
Hypothyroidism, Hepatic steatosis, Abnormality of the liver, Obesity, Short stature, Failure to t... ORPHA:1606
Alström Syndrome
Hepatic failure, Decreased circulating T4 level, Increased circulating androgen concentration, Ab... ORPHA:64
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Decreased body weight, Intrauterine growth retardation, Obesity, Jaundice, Ove... OMIM:619475
Digeorge Syndrome
Cholelithiasis, Hypothyroidism, Hepatic steatosis, Parathyroid agenesis, Abnormality of the thymu... OMIM:188400
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Insulin resistance, Severe failure to thrive, Pubertal development... ORPHA:740
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Hypercho... ORPHA:273
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, F... OMIM:619503
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Pmm2-Cdg
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Elevated circulating growth ... ORPHA:79318

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 Helz2

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 Helz2.

No publications found that use IMPC mice or data for Helz2.

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MGI Allele Allele Type Produced
Helz2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Helz2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Helz2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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