Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ataxin 2
Synonyms:
ATX2,  Sca2,  9630045M23Rik

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 Atxn2 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 Atxn2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Atxn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hepatic steatosis, Decreased HDL cholesterol concentration, Azoospermia, In... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Portal hypertension, Hepatic failure OMIM:615878
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Generalized lipodystrophy, Hypocalcemia... OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Jaundice, Hepa... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline p... OMIM:605479
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Abnormal liver function tests during pregnancy OMIM:614972
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou... OMIM:604367
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperp... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperp... ORPHA:276580
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Intr... OMIM:214950
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Polycystic ovaries... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... OMIM:614480
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Large for gestational age, Diffuse pancreatic isl... ORPHA:276556
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Oligomenorrhea, Lipodystrophy, Insulin resistance, Hepatic ste... OMIM:613877
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Oligome... ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin... OMIM:617872
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in... ORPHA:79237
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lo... ORPHA:435651
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp... OMIM:617093
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Citrullinemia, Type Ii, Neonatal-Onset
Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Elevated ... OMIM:605814
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... ORPHA:35878
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Impaired distal tacti... OMIM:618400
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Precocious puberty in females, H... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Hyper... ORPHA:363400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Loss of su... OMIM:608709
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Hy... OMIM:151660
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Agitation, Hypo... ORPHA:263455
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Increased body weight, ... ORPHA:97279
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Impaired glucose tolerance... OMIM:606069
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Bilateral cryptorchidism, Elevated circulating alanine aminotransferase... OMIM:619685
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Mednik Syndrome
Intrahepatic cholestasis ORPHA:171851
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase co... OMIM:619386
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Mody
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Irida Syndrome
Intrahepatic cholestasis ORPHA:209981
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Abnorm... ORPHA:247585
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Loss... ORPHA:79083
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:619048
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Primary amenorrhea, Dorsocervical fat pad, Hyperinsulinemic h... OMIM:616033
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Elevated circulating alanine aminotransferase c... OMIM:614887
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Dietary Iron Overload Disease
Abnormal adrenal morphology, Increased circulating ferritin concentration, Hepatomegaly, Abnormal... ORPHA:139507
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Male hypogonadism, Elevated circulating hepatic transaminase ... OMIM:615381
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine co... ORPHA:26792
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Portal fibrosis, Elevated circulat... ORPHA:264580
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Loss of subc... ORPHA:2348
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... OMIM:262400
Lathosterolosis
Bilobate gallbladder, Ambiguous genitalia, male, Intrahepatic cholestasis, Elevated circulating a... OMIM:607330
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Hernia of the abdominal wall, Obesity, Cry... ORPHA:3055
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, ... OMIM:227810
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia, Cr... ORPHA:2849
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:610198
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Hyperins... ORPHA:79086
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Elevated circulating hepatic tra... OMIM:608594
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Elevated circulating hepat... ORPHA:79240
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, Decreased testicular... OMIM:616222
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elev... OMIM:269700
Hepatic Veno-Occlusive Disease
Jaundice, Increased body weight, Elevated circulating hepatic transaminase concentration, Hepatom... ORPHA:890
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Somatostatinoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunction, Hepatomegaly, Increa... ORPHA:97283
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:369
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Grfoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Vipoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulating gonadotro... ORPHA:97282
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chorea, Truncal ataxia, He... ORPHA:369840
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasi... ORPHA:189427
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g... ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis, Hyperprolinemia, Hyperalaninemia OMIM:615918
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... ORPHA:79319
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Abnormal reproductive system morphology, Abnormal circulating enzyme co... ORPHA:70472
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic... ORPHA:280365
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypohidrosis, Hypoglycemia... ORPHA:633
Farber Disease
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:333
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hypoglycemia, Hyperammone... OMIM:620454
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Very long chain fatty acid... OMIM:264470
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hepatic steatosis, Hypogonadism OMIM:615996
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Failure to thrive, Reduced subcu... OMIM:606812
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis,... ORPHA:210548
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Hypoplasia of penis, Failure to thrive, Hepatic failure ORPHA:46059
Glucagonoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulating gonadotro... ORPHA:97280
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Li... ORPHA:300536
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Pituitary hypothyroidism, Incr... ORPHA:90674
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Increased body weight, Motor ste... OMIM:182290
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t... ORPHA:77296
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:614582
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:613327
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liv... ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypogl... OMIM:602579
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Acute pancreatit... ORPHA:444490
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous... OMIM:248370
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Truncal obesity, Precocious puberty, Obesity, Cryptorchidis... ORPHA:96184
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci... ORPHA:101330
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hype... ORPHA:91
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Ataxia, Micronodular cirrhosis, ... OMIM:256810
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Hyperi... OMIM:203800
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly, Hypertriglyceridemia OMIM:615924
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty... OMIM:615812
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro... OMIM:251880
Laurence-Moon Syndrome
Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Congenital hepatic fibrosis, A... ORPHA:2377
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Adrenal insuffici... OMIM:176270
Chylomicron Retention Disease
Impaired proprioception, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:71
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, P... OMIM:231100
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hypoglycem... OMIM:232400
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Splenomegaly, Umbil... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ... OMIM:619418
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:615160
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Xanth... ORPHA:79259
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentrat... ORPHA:298
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Hypercholesterolemia, Elevated circulating hepatic transaminase concentr... OMIM:300972
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Bardet-Biedl Syndrome 4
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism OMIM:615982
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
19P13.12 Microdeletion Syndrome
Hyperactivity, Hyperlipidemia, Arthrogryposis multiplex congenita, Hypothyroidism, Precocious pub... ORPHA:254346
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Elevated circulating ... ORPHA:2959
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Jaundice, Hepatomegaly, Elevated circulating he... ORPHA:79239
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, External genital hypoplasi... ORPHA:79322
Laurence-Moon Syndrome
Small scrotum, Obesity, Ataxia, Micropenis OMIM:245800
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ele... OMIM:212138
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure ... OMIM:614736
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Leptin Deficiency Or Dysfunction
Decreased testicular size, Obesity, Micropenis, Hypogonadism OMIM:614962
Smith-Magenis Syndrome
Delayed puberty, Hypertriglyceridemia, Precocious puberty, Hypothyroidism, Obesity, Failure to th... ORPHA:819
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Addictive alcohol use, Hyperglycemia, Hypopituitarism, Hypercholesterolemia ORPHA:90065
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Hypothyroidism, Failure to thrive, Diabetes mellitus,... OMIM:616263
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Failure to thrive, Acute hyperammonemia OMIM:210200
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Chorea, Ataxia, Lipodystrophy, Hy... OMIM:619273
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Glycosuria, Neonatal death, Hypoglycemia, El... OMIM:231680
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly ORPHA:35
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Decreased glucosephosphate isomerase level, Sensory ataxia, Ataxia, Spl... OMIM:613470
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Rectovaginal fistula, ... OMIM:243800
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Jaundice, Decreased liver function, Elevated circ... ORPHA:275761
Rabson-Mendenhall Syndrome
Polydipsia, Increased serum testosterone level, Fasting hypoglycemia, Fasting hyperinsulinemia, H... ORPHA:769
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Prolonged neona... OMIM:619481
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:608836
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator... ORPHA:186
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Biemond Syndrome Type 2
Obesity, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Retrograde ejaculation, Increase... ORPHA:230
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu... ORPHA:3464
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pan... ORPHA:93111
Bardet-Biedl Syndrome 20
Pancreatitis, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, ... OMIM:619471
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Reduced cystathionine beta-synthase activity in cult... OMIM:236200
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Monosomy 13Q34
Obesity, Hypercalcemia, Metrorrhagia, Insulin resistance, Hepatic steatosis ORPHA:96168
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... ORPHA:470
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... ORPHA:98908
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc... ORPHA:228308
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Attention deficit hy... ORPHA:73272
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:610628
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Severe failure to thrive, Elevated circulating hepatic trans... ORPHA:30391
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increas... ORPHA:508
Atypical Werner Syndrome
Delayed puberty, Hypertriglyceridemia, Lipoatrophy, Hypogonadism, Fasting hyperinsulinemia, Hepat... ORPHA:79474
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, Hy... ORPHA:199296
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly, Hepatic failure ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Failure to thri... OMIM:617049
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated circulating hepatic transami... OMIM:618329
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Late-Onset Isolated Acth Deficiency
Anorexia, Premature ovarian insufficiency, Hypoparathyroidism, Decreased circulating ACTH concent... ORPHA:199299
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism OMIM:616629
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal testis morphology, Hypogonadism ORPHA:2233
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Splenomegaly, Dysphagia, Hy... ORPHA:699
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he... ORPHA:66634
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperu... ORPHA:20
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Prolonged neon... OMIM:619377
Bardet-Biedl Syndrome 2
Obesity, External genital hypoplasia, Hypogonadism OMIM:615981
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Overweight, Obesity, Hype... ORPHA:90041
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Hypogonadism, Small s... ORPHA:2234
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Wagr Syndrome
Ambiguous genitalia, Obesity, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly, Ataxia OMIM:612291
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurren... ORPHA:2126
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular size, Central hypothyroidism, E... OMIM:616113
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemia, Cholestasis, Chronic hepatic failure,... ORPHA:746
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia, Somatic sensory dysfunction ORPHA:459033
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemi... OMIM:131100
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, H... ORPHA:445038
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Steatorrhea, Elevated circulating hepatic transaminase concentration, De... ORPHA:14
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, A... OMIM:617600
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body weight, Increased body mass index OMIM:614450
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Stillbirth, Hepatomegaly, Neonatal death, Hepatic steatosis OMIM:614922
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Decreased response to growth hormone... ORPHA:273
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:229600
Carpenter Syndrome
External genital hypoplasia, Obesity, Umbilical hernia, Cryptorchidism, Abnormal reproductive sys... ORPHA:65759
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia, Motor stereotypy ORPHA:2479
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism ORPHA:589905
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro... ORPHA:64753
Infantile Liver Failure Syndrome 2
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperammonemia, Acute hepatic ... OMIM:616483
Sheehan Syndrome
Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insufficiency, Decr... ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis, Chorea OMIM:616672
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Failure to thrive, Ataxia, Diffuse hepatic steatosis ORPHA:436271
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99228
Monosomy X
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99226
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Bloom Syndrome
Decreased fertility in females, Azoospermia, Type II diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:210900
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly, Penile freckling, Hyd... OMIM:605309
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-bound seru... OMIM:277900
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Hepa... ORPHA:525731
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female... ORPHA:85138
Blue Diaper Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration ORPHA:94086
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Azoospermia, Hyperactivity, Oligozoospermia... ORPHA:8
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Obesity, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:615630
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Splenomega... OMIM:210250
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, O... ORPHA:786
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Methylmalonic acidemia, Fa... ORPHA:17
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Hyperactivity, Impotence, Adrenal insufficiency, Disinhibition... ORPHA:43
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chorea, Truncal ataxia, At... OMIM:615356
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Gait ataxia, Obesity, Disproportionate tall stature, ... OMIM:615300
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Truncal ataxia, Failure to thrive, Ataxia, Increased intr... OMIM:220110
Neuhauser Syndrome
Primary hypothyroidism, Hypercholesterolemia, Dysphagia OMIM:249310
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture OMIM:616271
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypopho... ORPHA:534
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Impaired pain sensation, Camptodactyly, Failure to thrive, Obesi... ORPHA:412035
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:424
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thr... ORPHA:90790
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Bardet-Biedl Syndrome 6
Obesity, External genital hypoplasia, Hypospadias, Vaginal atresia OMIM:605231
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia OMIM:600151
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transamina... OMIM:232200
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Prolon... ORPHA:99832
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Hypothyroidism, Hyperthyroidism... ORPHA:449291
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d... OMIM:620185
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Palmoplantar hyperhidrosis, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transamina... OMIM:232220
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:99819
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, I... ORPHA:110
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Reduced subcutaneous adipose tissue... OMIM:609069
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alkal... OMIM:619525
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Increased body weight, Small for gestational age OMIM:274300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Impaired temperature sens... ORPHA:398079
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypotriglyceridemia, Micro... ORPHA:404454
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age ORPHA:254534
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Impaired temperature sensation, Small pituitary ... ORPHA:398069
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Flexion contracture, Micropenis, Abdominal ob... OMIM:619321
Garg-Mishra Progeroid Syndrome
Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis OMIM:620601
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Increased hepatic glycogen content, Truncal ataxia, Dysesthesia, Gait ataxia, Ataxia OMIM:619259
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsiv... OMIM:619475
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight, Adrenal hyperplasia OMIM:615830
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Flexion contracture, Splenomegaly, Hypoalbuminemia OMIM:617303
Argininemia
Anorexia, Hepatomegaly, Portal fibrosis, Hyperactivity, Cholestasis, Hyperargininemia, Hyperammon... OMIM:207800
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity OMIM:603233
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
1P36 Deletion Syndrome
Annular pancreas, Polyphagia, Hypothyroidism, Failure to thrive, Obesity, Camptodactyly of finger... ORPHA:1606
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Biliary tract abnormality, Obesity, Ataxia, ... OMIM:209900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Joint contracture of the hand, Corneal scarring, Elevated circulating creatine ki... OMIM:309000
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypophosphatemi... OMIM:276700
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis OMIM:300860
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Hyperactivity, Precocious puberty, Failure to... OMIM:270400
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macr... OMIM:619127
Digeorge Syndrome
Cholelithiasis, Inguinal hernia, Hypocalcemia, Hypoplasia of the thymus, Femoral hernia, Hypothyr... OMIM:188400
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Cryptorchidism OMIM:117550
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatitis, Hypothyroidism, Splenomegaly, Weight loss, Increased circulating ferriti... OMIM:615846
Intellectual Developmental Disorder, Autosomal Dominant 68
Attention deficit hyperactivity disorder, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Ova... ORPHA:1772
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular c... OMIM:232240
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Decreased response to growth hormone stimulation test, Loss of... ORPHA:3455
Arima Syndrome
Cirrhosis, Hepatomegaly, Ataxia, Hepatic fibrosis, Hepatic steatosis OMIM:243910
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia, Hyperglycem... OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Cholestasis, Impulsivity, Dysphagia, Bruxism, Hepatic ... OMIM:619503
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Failure to thriv... OMIM:618278
Ogden Syndrome
Jaundice, Macrovesicular hepatic steatosis, Maternal diabetes, Inguinal hernia, Microvesicular he... OMIM:300855
Carney Complex
Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Increased body weight, Pituitar... ORPHA:1359
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Hypogonadism, Vaginal atresia OMIM:615989
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Joubert Syndrome 39
Overweight, Pain insensitivity, Joint contracture of the 5th finger OMIM:619562
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Spinocerebellar Ataxia Type 2
Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Chorea, Gait ataxia, Olivoponto... ORPHA:98756
Hellp Syndrome
Increased circulating lactate dehydrogenase concentration, Increased body weight, Elevated circul... ORPHA:244242
Adrenocortical Carcinoma
Increased body weight, Weight loss, Adrenocorticotropic hormone deficiency ORPHA:1501
Spinocerebellar Ataxia 2
Limb ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Cerebellar atrophy, Dilated fourt... OMIM:183090
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Vaginitis, Peritonitis ORPHA:2968
Cushing Disease
Increased body weight, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Dorsocervical f... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Prostate cancer, Weight loss, Pancr... ORPHA:99889
Amyotrophic Lateral Sclerosis
Cachexia, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Parkinson Disease, Late-Onset
Dysphagia OMIM:168600

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 Atxn2

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 Atxn2.

No publications found that use IMPC mice or data for Atxn2.

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
Atxn2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atxn2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Atxn2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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