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Gene: Klb MGI:1932466

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Gene Summary

Name:
klotho beta
Synonyms:
betaKlotho

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta size Klbem1(IMPC)J HOM E18.5 0.00
preweaning lethality, incomplete penetrance Klbem1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Klbem1(IMPC)J HOM E18.5 0.00
abnormal placenta vasculature Klbem1(IMPC)J HOM E18.5 0.00
decreased grip strength Klbem1(IMPC)J HET   Early adult 2.99×10-07

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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.

Electroretinography 3

Fundus file

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Gross Morphology Placenta E18.5

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Gross Morphology Embryo E18.5

Images

9 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

17 Images

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Human diseases caused by Klb 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 Klb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decrea... ORPHA:79085
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased serum leptin, Increased C-peptide level, Lipodystrophy, Decreased... OMIM:615238
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... ORPHA:435660
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, C... ORPHA:69663
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose t... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis OMIM:300752
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis OMIM:224100
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline p... OMIM:605479
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration OMIM:602114
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles... OMIM:616834
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Gcgr-Related Hyperglucagonemia
Abnormal biliary tract morphology, Neoplasm of the pancreas, Cholelithiasis ORPHA:438274
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
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
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Jaundice, Intrahepatic cholestasis, Cirrhosis, Hepatomegaly, Elevated circulating al... OMIM:613812
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormal ci... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:616829
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Decreased glucosephosphate isomerase level, Cholelithiasis, Splenomegaly, Pigment galls... OMIM:613470
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Loss of subcutaneous ... ORPHA:280365
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... OMIM:612526
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep... ORPHA:209902
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
Pancreatic Colipase Deficiency
Steatorrhea, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Diarrhea 13
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration OMIM:620357
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia OMIM:620195
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Jaundice, Intrahepatic cholestasis, Cirrhosis, Hepatomegaly, Elevated circulating he... OMIM:607765
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... ORPHA:276556
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Reduced erythrocyte hexokinase activity, Cholecystitis OMIM:235700
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia, Hypoglycemia, Red... ORPHA:2126
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... OMIM:616828
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis... ORPHA:369
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Hepatic Veno-Occlusive Disease
Increased body weight, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatom... ORPHA:890
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Reduced subcutaneous adipose t... ORPHA:363400
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Increas... ORPHA:528
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Spherocytosis, Type 1
Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase concentration, Hy... ORPHA:96180
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Splenomegaly, Cho... OMIM:266200
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty... OMIM:615812
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Failure to thrive, Steatorrhea, Hypocholesterol... OMIM:266510
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Elevated circulating aldolase concentration, Reduced muscle 6-phosphofr... OMIM:232800
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Increased circulating lactate dehydrogenase concentration, Acu... OMIM:278000
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Lipodystrophy OMIM:608776
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss, Cholelithiasis, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hyp... ORPHA:263455
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Beta-Thalassemia
Hepatomegaly, Hepatitis, Splenomegaly, Cholelithiasis ORPHA:848
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Pr... OMIM:619481
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tiss... OMIM:608594
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Elevated circulating hepatic transaminase concentration, Cholelithiasis, H... OMIM:614886
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta... ORPHA:131
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tiss... OMIM:269700
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:615506
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Ppoma
Hepatomegaly, Intrahepatic cholestasis, Neoplasm of the pancreas, Cholelithiasis, Increased circu... ORPHA:97278
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Increased facial adipose tissue, Loss of subcutaneous adipose tissu... OMIM:248370
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Alg12-Cdg
Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive, Hyponatremia, Recurrent hyp... ORPHA:79324
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Glycogen Storage Disease Xii
Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity, Cholel... OMIM:611881
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatocellular carc... OMIM:619902
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Steatorrhea, Elevated circulating hepatic transaminase concent... OMIM:618752
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Panniculitis, G... ORPHA:79086
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati... OMIM:605814
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperlipidemia ORPHA:2089
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hypergonadotropic hypogonadism, Hypot... OMIM:212065
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... OMIM:246200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Cholelithiasis, Biliary tract obstruction, Splenic infarction, Portal hy... ORPHA:77259
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concent... OMIM:607330
Grfoma
Hepatomegaly, Intrahepatic cholestasis, Neoplasm of the pancreas, Cholelithiasis, Increased circu... ORPHA:97261
Combined Oxidative Phosphorylation Deficiency 59
Failure to thrive, Cholelithiasis OMIM:620646
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia ORPHA:79319
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Rett Syndrome
Increased serum leptin, Failure to thrive, Increased serum pyruvate, Hyperammonemia ORPHA:778
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis OMIM:160900
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Failure to thrive, Splenomegaly, Cholecyst... OMIM:615512
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circ... OMIM:605911
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hypertriglyceridemia, Hyperinsulinemia, Generaliz... ORPHA:79474
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Failure to thrive, Hypoalbuminemia OMIM:602579
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased body weight, Decreased testicular size, Failure to thrive, Cryptorchidism OMIM:300534
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice... ORPHA:100086
Alpha-Thalassemia
Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Cholelithiasis OMIM:618775
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Failu... OMIM:613327
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly OMIM:603903
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Decreas... OMIM:618268
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Failure to th... OMIM:614098
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Increased circulating lactate dehydrogenase concentration,... ORPHA:3202
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal circulating enzyme concentration or activity, Ab... ORPHA:512
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Decreased circulating lipoprotein lipase concentra... ORPHA:556955
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Hereditary Spherocytosis
Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly ORPHA:822
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Increased circulating lactate dehydrogenase concent... ORPHA:232
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis OMIM:240300
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Cholelithiasis ORPHA:288
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Exocrine pancrea... OMIM:618500
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I... ORPHA:230
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increased circulating... ORPHA:508
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Hyperlip... ORPHA:77293
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Obesity, Hepatosplenomegaly, Cholecystitis OMIM:301066
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatomegaly, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Cerebrotendinous Xanthomatosis
Xanthelasma, Cholelithiasis OMIM:213700
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Reduced erythrocyte uroporphyrinogen III co... OMIM:263700
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Failure ... ORPHA:2255
Smith-Lemli-Opitz Syndrome
Precocious puberty, Failure to thrive, Elevated circulating 7-dehydrocholesterol concentration, H... OMIM:270400
Bohring-Opitz Syndrome
Annular pancreas, Severe failure to thrive, Cholelithiasis ORPHA:97297
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Failure to thrive, Cryp... ORPHA:83617
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis, Abnormal circulating enzyme concentration or activity ORPHA:909
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypotriglyceridemia, Corneal scarring, Failure to thrive, Decreased LDL cholesterol concentration... ORPHA:404454
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Cachexia, Hepatosplenomegaly, Splenomegaly, Abnormality of the spleen, Hepatic fi... ORPHA:2072
Gaucher Disease
Cirrhosis, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenic rupture, Splenomegaly, Hepat... ORPHA:355
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cholelithiasis, Hypoplasia of the thymus, Failure to thrive, Obesity, Splenom... ORPHA:567
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Trisomy 10P
Absent gallbladder, Small for gestational age ORPHA:171929
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Cholecystitis... ORPHA:774
Steinfeld Syndrome
Absent gallbladder OMIM:184705
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Zttk Syndrome
Absent gallbladder, Failure to thrive OMIM:617140
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Obesity, Parathyroid hypoplasia, Ovarian cyst, Splenome... OMIM:188400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Williams Syndrome
Cholelithiasis, Obesity, Failure to thrive in infancy, Polycystic ovaries, Cryptorchidism ORPHA:904
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Tetrasomy 9P
Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism ORPHA:3310
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy ORPHA:500150
Peters-Plus Syndrome
Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism, Decreased body weight OMIM:261540
Alkaptonuria
Black pigment gallstones ORPHA:56
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99226
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Pancreatic adenocarcinoma, Pancreatitis, Biliary tract obstruction, ... ORPHA:733
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased r... ORPHA:64

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 Klb

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 Klb.

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

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
Klbem1(IMPC)J Exon Deletion Mice
Klbtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Klbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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