Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
complement component 5a receptor 2
Synonyms:
C5L2,  Gpr77,  E030029A11Rik

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 C5ar2 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 C5ar2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... OMIM:609734
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... OMIM:231100
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hypertriglyceridemia, Hyperinsul... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:324575
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Decreased response to growth... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Decreased response to growth... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... OMIM:610717
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... ORPHA:276556
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jaundice, Jaundice ORPHA:3111
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Mic... OMIM:251880
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... OMIM:614300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnormal circulating a... ORPHA:71212
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbu... OMIM:617156
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... OMIM:616860
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Lipodystrophy, Adipose tissue lo... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased total bilirubin, Jaundice ORPHA:890
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Hypera... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Hepatic steatosis, ... OMIM:619048
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypogly... OMIM:231530
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease OMIM:174050
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Decreased circulating T4 level, Decreased thyroid-stimu... ORPHA:95715
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, Hepat... OMIM:617872
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Hepatic... ORPHA:100093
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic failure, Elevated hepatic tr... OMIM:235555
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia ORPHA:329249
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration ORPHA:26792
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Hyperammonemia, Recurrent hypogly... OMIM:212140
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentr... OMIM:617049
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic failure, Hypoal... OMIM:602579
Hepatoportal Sclerosis
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:608594
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... ORPHA:139491
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Decreased circulating T4 level, Elevated circulating thyroid-stimula... ORPHA:95717
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... ORPHA:90970
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Insulin resistance, Elevated circulating creatine kinase concentration, ... OMIM:613327
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... ORPHA:2348
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Umbilical hernia, Neonatal hyperbilirubinemia, Increased radio... ORPHA:95716
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Hypergon... ORPHA:79237
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:269700
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated circulating glutaric acid con... OMIM:231680
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypothyr... ORPHA:79319
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... OMIM:615710
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Portal hyper... OMIM:278000
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Lipoyltransferase 1 Deficiency
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Wolcott-Rallison Syndrome
Central hypothyroidism, Hepatomegaly, Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Abnormali... ORPHA:1667
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:600649
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Conjugated h... OMIM:613404
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dysphagia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypera... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Leptin Deficiency Or Dysfunction
Hypogonadism, Abnormal eating behavior, Decreased serum leptin, Polyphagia OMIM:614962
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... ORPHA:766
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... OMIM:246200
Porphyria Cutanea Tarda
Increased serum iron, Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Ch... ORPHA:101330
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Hepatocellular Carcinoma
Hepatomegaly, Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hemobilia, Hy... ORPHA:88673
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:228305
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Hypoglycemia, Elevated circulating creatine kinase concentra... ORPHA:42
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... OMIM:613280
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... ORPHA:53693
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce... ORPHA:348
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypothyroidism, Hyp... OMIM:619013
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Increased total bilirubin, Acute hepatitis, Spleno... ORPHA:2137
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Retinitis Pigmentosa
Hypogonadism, Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:269920
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Conjugated h... OMIM:208085
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Abnormality of the pancreas, Increased serum bile acid concentration, Hypothy... ORPHA:69665
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... OMIM:608836
Glycogen Storage Disease Vii
Increased total bilirubin, Cholelithiasis, Hyperuricemia, Jaundice OMIM:232800
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Spherocytosis, Type 1
Jaundice, Hyperbilirubinemia, Cholelithiasis, Splenomegaly OMIM:182900
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Macr... OMIM:256810
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li... ORPHA:53035
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... ORPHA:90673
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Primary hypothyroidism, Lipodystrophy ORPHA:300536
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated cir... ORPHA:264580
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Recurrent hypoglycemia, Decreased response to growth hormo... ORPHA:254516
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Cholelithiasis, Patent ductus arteriosu... OMIM:614886
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hypoalbuminemia, Hepatic fibrosis, Hepatocellular carc... ORPHA:186
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine aminotransferase c... OMIM:614582
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Polyphagia OMIM:248100
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglyc... OMIM:212138
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypergonadotropic hypogonadism, Neonatal hypoglycemia, Hypocalcemia, Decreased respon... OMIM:606407
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hernia, Hyperbilirubinemia ORPHA:101009
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... ORPHA:562639
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hyperuricosuria, Ci... OMIM:229600
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Cholestasis, Hepatic failure, Hyperbilirubinemia OMIM:606812
Graft Versus Host Disease
Fasciitis, Lipodystrophy, Hyperbilirubinemia, Acute hepatitis, Hepatosplenomegaly, Dupuytren cont... ORPHA:39812
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Primary hypothyroidism, Steatorrhea, Cholestasis, Low plasma ... ORPHA:95427
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616649
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thyroglobulin level... ORPHA:90674
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... OMIM:614921
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis, Dysphagia ORPHA:70472
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Increased total bilirubin, Splenomegaly, Increased c... OMIM:603553
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hypocholesterolemia, Dec... ORPHA:14
Acyl-Coa Dehydrogenase 9 Deficiency
Hyperammonemia, Elevated creatine kinase after exercise, Hepatic steatosis, Acute hepatic failure... ORPHA:99901
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal... ORPHA:288
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Polydipsia, Congenital hepatic fibros... ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Polyphagia, Polydipsia, Splenomegaly, Thyro... ORPHA:525731
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Hypocalcemia OMIM:259720
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Cholesterol gallstones... ORPHA:521219
Sickle Cell Anemia
Abnormality of the spleen, Unconjugated hyperbilirubinemia, Elevated circulating creatinine conce... ORPHA:232
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance ORPHA:73272
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased ... ORPHA:3008
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Increased total iron binding capacity, Hyperbilirubinemia, Increas... ORPHA:98870
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Diabe... ORPHA:541423
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Familial Chylomicronemia Syndrome
Hyperlipidemia, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Acute pancreatitis... ORPHA:444490
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated hepatic transam... OMIM:613471
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Polydipsia, Insulin resistance, Insulin... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia OMIM:619075
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Hypogonadotropic hypogonadism, Hyperalaninemia, Cirrhosis, Macrovesicular hepatic stea... ORPHA:298
Bardet-Biedl Syndrome 9
Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... ORPHA:905
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... ORPHA:228308
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration OMIM:601775
Relapsing Fever
Elevated circulating creatinine concentration, Increased total bilirubin, Elevated hepatic transa... ORPHA:91547
Hereditary Spherocytosis
Hepatomegaly, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Jaundice ORPHA:822
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Patent d... OMIM:301068
Huntington Disease
Oral-pharyngeal dysphagia, Choking episodes, Abnormal circulating cholesterol concentration, Poly... ORPHA:399
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Abnormal subcutaneous fat t... OMIM:212065
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased total bilirubin, Splenomegaly, Increased c... ORPHA:3202
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Knee flexion ... ORPHA:79322
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Pick Disease Of Brain
Polyphagia OMIM:172700
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated circulatin... OMIM:615486
Frontotemporal Dementia
Polyphagia OMIM:600274
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Lack of facial subcutaneous fat, Insulin-resistant diabetes mellitus... ORPHA:2959
Schaaf-Yang Syndrome
Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Flexion contracture, Camptodactyly OMIM:615547
Solute carrier family 4 (anion exchanger), member 1
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:109270
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Graves Disease, Susceptibility To, 1
Graves disease, Polyphagia, Goiter OMIM:275000
Acute Liver Failure
Adrenal insufficiency, Hypoglycemia, Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Hypera... ORPHA:90062
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Macronodular cirrhosis, Splenomegal... OMIM:619418
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Steatorrhea, Diabetes mellitus, Hypothyroidism... OMIM:616263
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Pancreatitis, Hepatic steatosis, Hypermethioninemia, Inguinal hernia OMIM:236200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehyd... OMIM:300908
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
Rh Deficiency Syndrome
Reduced haptoglobin level, Hepatosplenomegaly, Hyperbilirubinemia, Jaundice ORPHA:71275
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Accessory... OMIM:300972
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Conjugated hyperbilirubinemia, Glycosuria, Jaundice OMIM:210550
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Redu... ORPHA:508
Pearson Syndrome
Adrenal insufficiency, Hypophosphatemia, Splenomegaly, Steatorrhea, Diabetes mellitus, Hepatic st... ORPHA:699
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia ORPHA:411515
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Polydipsia, Aplasia/Hypoplasia of the pancreas, Abn... ORPHA:93111
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure OMIM:611126
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Hypothyroidism, Patent ductus arteriosus ORPHA:293939
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Precocious... ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Hepatic steatosis,... ORPHA:98908
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Polyphagia, Pituitary adenoma, Hypopituitarism, Ele... OMIM:300942
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Portal fibrosis, Bile duct proliferation, Hyperbilirubinemia, Patent d... OMIM:613610
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Hypocalcemia, Cirrhosis, ... OMIM:613658
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Premature adrenarche, Hypogona... ORPHA:98754
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Premature adrenarche, Hypogona... ORPHA:98793
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Acute pancreatitis, Hypoth... OMIM:619487
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Reduc... ORPHA:2126
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Premature adrenarche, Hypogona... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Premature adrenarche, Hypogona... ORPHA:177901
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated circulating glutaric acid conce... ORPHA:66634
X-Linked Lymphoproliferative Disease
Hepatic necrosis, Fulminant hepatitis, Splenomegaly, Decreased liver function, Increased circulat... ORPHA:2442
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Premature adrenarche, Hypogona... ORPHA:398073
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia OMIM:609727
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Increased serum... OMIM:619377
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Bile duct proliferation, Polycystic liver disease, Conjugated... OMIM:208500
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Polyphagia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Dela... ORPHA:251004
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Hepatic steatosis, Hypergonadotrop... ORPHA:91
Man1B1-Cdg
Polyphagia ORPHA:397941
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Cholestasis, Hypocalcemi... ORPHA:746
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis, Hypogonadism OMIM:619273
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content, Hyperli... ORPHA:79259
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Polyphagia, Hypogonadotropic hypogonadism, Hype... OMIM:176270
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis OMIM:618278
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Premature adrenarche, Hypogonadotr... ORPHA:398079
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated hepatic transaminase, Hyperbilirubinemia... OMIM:607330
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Hip contracture, Hyperbilirubinemia ORPHA:464321
Biliary, Renal, Neurologic, And Skeletal Syndrome
Patent ductus arteriosus, Splenomegaly, Increased circulating ferritin concentration, Anterior pi... OMIM:619534
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Hypocalcemia, Jaundice OMIM:228100
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Polyphagia, Hypo... ORPHA:79444
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Gangliocytoma
Abnormal prolactin level, Polyphagia, Abnormality of the pituitary gland, Pituitary prolactin cel... ORPHA:251937
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Hyperbilirubinemia, Eleva... OMIM:218700
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Premature adrenarche, Decrease... ORPHA:739
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Decreased liver function, Cholestasi... OMIM:124000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyponatremia, Polyphagia, Polydipsia, Hyperglycemia, Premature adrenarche... ORPHA:293987
Trisomy 18P
Polyphagia ORPHA:1715
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia, Decreased methylmalonyl-Co... OMIM:251110
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Absence of pubertal development, H... ORPHA:398069
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Patent ductus arteriosus, Absent gallbladder ORPHA:163979
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Polyphagia, Hypo... ORPHA:79443
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... ORPHA:54595
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Hyperammonemia, Recurrent hypoglycemia, Hyperuri... ORPHA:20
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... ORPHA:3464
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Fatal liver failu... ORPHA:275761
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Patent ductus arteriosus, Splenomegaly, Macrovesicular hepatic steatosis, Flexion c... OMIM:617303
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Jaundice ORPHA:168577
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia, Decreased methylmalonyl-Co... OMIM:251100
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Diffuse hepatic steatosis, Hepatomegaly, Decreased liver function, Glycosuria ORPHA:436271
D-Bifunctional Protein Deficiency
Hepatomegaly, Bile duct proliferation, Primary adrenal insufficiency, Splenomegaly, Hepatic steat... OMIM:261515
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Degcags Syndrome
Hepatomegaly, Choking episodes, Hyperbilirubinemia, Patent ductus arteriosus, Abnormal spleen mor... OMIM:619488
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Elevated hepatic transam... ORPHA:273
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hypoglycemia, Methylmalonic acidemia, Patent ductus arteriosus, Hepatic steatosis, ... ORPHA:17
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... OMIM:615356
Turner Syndrome Due To Structural X Chromosome Anomalies
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:99413
Turner Syndrome
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:881
Mosaic Monosomy X
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:99228
Monosomy X
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:99226
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Peritonitis, Elevated circulating cre... ORPHA:90038
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Dysphagia, Unconjugated hyperbilirubinemia, Decreased serum iron, Glyc... ORPHA:447
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, Micronodular cirrhosis, ... OMIM:203700
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypokalemia, Hepatic steatosis, Elevated circulating alanine aminotransferase conce... OMIM:619573
Angelman Syndrome
Precocious puberty in females, Delayed menarche, Dysphagia, Polyphagia ORPHA:72
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Glucose intolerance, Generalized lipodystrophy, Macrovesicular hepatic steatosis, H... OMIM:619127
Luscan-Lumish Syndrome
Polyphagia OMIM:616831
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oral bolus formation, Hepatomegaly, Microvesicular hepatic steatosis, Limb joint contrac... ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Increased hepatocellular lipid droplets, Glycosuria OMIM:220110
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Hyperhomocystinemia, Hypomethioninemia, Methylmaloni... OMIM:277410
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... OMIM:619525
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Scarring, Unconjugated hyperbilirubinemia, Scarring alopecia of scalp,... ORPHA:79277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia, Hepatic steatosis, Elevated hepatic transaminase, Delayed puberty, Jaundice OMIM:619475
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Polyphagia, Patent ductus arteriosus ORPHA:96121
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Dysphagia, Hyperalaninemia, Hepatic failure, Low plasma citrulline, Abnormality of ... ORPHA:255210
Alström Syndrome
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... ORPHA:64
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Neonatal hyperbilirubinemia ORPHA:163956
1P36 Deletion Syndrome
Abnormality of the spleen, Dysphagia, Polyphagia, Annular pancreas, Patent ductus arteriosus, Hyp... ORPHA:1606
Arima Syndrome
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis OMIM:243910
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Adnp Syndrome
Oral-pharyngeal dysphagia, Umbilical hernia, Polyphagia, Inguinal hernia ORPHA:404448
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Red... ORPHA:3455
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Azotemia, Hypoplasia of the ovary, Flexion contracture OMIM:619321
Pmm2-Cdg
Multiple joint contractures, Hepatic fibrosis, Insulin resistance, Hypogonadotropic hypogonadism,... ORPHA:79318
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninemia, Decreased methy... OMIM:277400
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:229300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dysphagia, Hip contracture, Thyroid hypoplasia, Reduced subcutaneous adipose tissue, Arthrogrypos... OMIM:619503
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Chromosome 1P36 Deletion Syndrome, Distal
Dysphagia, Congenital hypothyroidism, Polyphagia, Patent ductus arteriosus, Hypothyroidism, Campt... OMIM:607872
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:302900
Friedreich Ataxia 2
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:601992
Friedreich Ataxia And Congenital Glaucoma
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:229310

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 C5ar2

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 C5ar2.

No publications found that use IMPC mice or data for C5ar2.

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MGI Allele Allele Type Produced
C5ar2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C5ar2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
C5ar2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
C5ar2em2(IMPC)H Intra-exon deletion Mice
C5ar2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
C5ar2em1(IMPC)H Intra-exon deletion Mice

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