Gene Summary

Name:
transmembrane 6 superfamily member 2
Synonyms:
N/A

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Lower urinary tract  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
bone 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 574)
oral epithelium 0.0%
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
uterus 0.35% (2 of 579)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

64 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Tm6sf2 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 Tm6sf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hy... OMIM:246700
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Diarrhea, Hypertriglyceridemia, Esophagea... ORPHA:75234
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia,... OMIM:615863
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... OMIM:607765
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Splenomegaly, Inflammation o... OMIM:300635
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Elevated hepatic transaminase, Hypocholesterolemia, Increased he... ORPHA:71
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly OMIM:615238
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Splenomegaly, Hepatosplenomegaly, Hypertri... OMIM:613101
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transamina... OMIM:214900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Vomiting, Increased circulating c... OMIM:238600
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Hepatomegaly ORPHA:79085
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Diarrhea, Eleva... OMIM:255120
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Hyperlipoproteinemia, Type Id
Colitis, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholestero... OMIM:615947
Temple Syndrome
High palate, Cleft palate, Bifid uvula, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... OMIM:619013
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal c... OMIM:615980
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:435651
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:370
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... ORPHA:435660
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly OMIM:618398
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... OMIM:618620
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hepatic ... OMIM:604367
Familial Chylomicronemia Syndrome
Hyperlipidemia, Jaundice, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased... ORPHA:444490
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Diarrhea, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentrat... ORPHA:247598
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Diarrh... ORPHA:264580
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Hypercholesterolemia OMIM:301033
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, Reduced circulating transferrin concentration, Secondary hype... ORPHA:90363
Congenital Generalized Lipodystrophy
Hepatomegaly, Macroglossia, Cirrhosis, Increased C-peptide level, Hypertriglyceridemia, Hyperchol... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:615381
Glycerol Kinase Deficiency
Hypertriglyceridemia, Episodic vomiting OMIM:307030
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:79240
Squalene Synthase Deficiency
Constipation, Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL ch... OMIM:618156
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steatorrhea, Abnormal se... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Potocki-Lupski Syndrome
High palate, Hypocholesterolemia, Gastroesophageal reflux, Oral-pharyngeal dysphagia OMIM:610883
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... OMIM:267700
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:619386
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Elevate... ORPHA:98907
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Diarrhea, Hypoplastic spleen OMIM:619313
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Hepatic steatosis, Elevate... OMIM:606069
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Hypertriglyceridemia, Constipation, Hypercholesterolemia OMIM:182290
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... OMIM:614300
Fanconi-Bickel Syndrome
Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Hepatocellul... ORPHA:2088
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hyperuricemia, Hepatic... ORPHA:79083
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Vomiting, Elevated hepatic transaminase, Decreased plasma carnitine... OMIM:212140
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:2348
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Hypocholester... ORPHA:96180
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis ORPHA:26792
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hepatomegaly, Constipation, Splenomegaly, Elevated circulating creatine kinase concentrati... OMIM:613327
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Protein-losing enteropathy, Hyp... OMIM:618183
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancreatitis, Hypertrigl... ORPHA:79086
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis ORPHA:209919
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Abnormality of the gastrointestinal tract ORPHA:2089
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Acute hepatic failure, Hyperammonemia, Increa... ORPHA:71212
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Steatorrhea,... ORPHA:14
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc... ORPHA:42
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatomegaly, Vomiting, Hepatic failure OMIM:617872
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Diarrhea, Vomiting, Elevated hepatic transaminase, Hypocholesterolemia... OMIM:212065
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Colitis, Enterocolitis, Splenomegaly, Hepatosplenom... OMIM:619802
Mandibuloacral Dysplasia
High palate, Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterole... ORPHA:2457
Nephrotic Syndrome, Type 1
Hyperlipidemia, Gastroesophageal reflux, Hypoproteinemia, Pyloric stenosis, Hypoalbuminemia OMIM:256300
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... OMIM:613070
Lysosomal Acid Lipase Deficiency
Decreased liver function, Microvesicular hepatic steatosis, Hepatic failure, Steatorrhea, Hepatos... ORPHA:275761
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating alanine aminotransferase conc... OMIM:277700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Vomiting, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis OMIM:201450
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis OMIM:615918
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly ORPHA:31150
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Atrophic muscularis propria, Small intestinal dysmotility, Cirrhosis, Di... ORPHA:298
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, ... OMIM:151660
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Seckel Syndrome 10
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Acute pan... OMIM:617253
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98855
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microves... OMIM:619418
Peroxisomal Acyl-Coa Oxidase Deficiency
Dysphagia, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula... ORPHA:228305
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Elevated hepatic... OMIM:203800
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:617591
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala... ORPHA:228308
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... OMIM:300972
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:261
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hyperproteinemia, Eleva... ORPHA:158048
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Hepatic failure ORPHA:156
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Steato... ORPHA:470
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Peptic ... ORPHA:90041
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat... ORPHA:101330
Smith-Magenis Syndrome
Gastroesophageal reflux, Constipation, Cleft palate, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Cleft palate, H... OMIM:619573
Osteootohepatoenteric Syndrome
Hypokalemia, Microvesicular hepatic steatosis, Episodic vomiting, Ileoileal intussusception, Incr... OMIM:619377
Adrenomyodystrophy
Constipation, Chronic constipation, Hepatic steatosis OMIM:300270
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Enterocolitis, Increased hepatic glycogen content, He... ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Diarrhea, Macro... OMIM:256810
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Elevated circu... OMIM:614921
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, In... ORPHA:77293
Dpm1-Cdg
Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated circulating creatine kinase conce... ORPHA:79322
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotra... OMIM:615486
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hepatic steatosis, Cleft palate ORPHA:254346
Microtriplication 11Q24.1
Hyperlipidemia, Cleft palate ORPHA:289522
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglycer... ORPHA:280365
Methanol Poisoning
Diarrhea, Hyperlipidemia, Vomiting ORPHA:31825
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia ORPHA:363618
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... ORPHA:189427
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Elevated circulating alanine aminotransfera... OMIM:261680
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Lipid accumulation in hepatocytes, Hepatomegaly, Narrow palate, Elevated circulating... OMIM:608836
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Decreased liver function, Hepatic steatosis, Gastroesophageal reflux ORPHA:70472
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Elevated hepatic transaminase, Hyperuricemia, Neonatal hyperbil... ORPHA:348
Ddost-Cdg
Gastroesophageal reflux, Elevated hepatic transaminase, Hepatic steatosis, Constipation ORPHA:300536
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Kaufman Oculocerebrofacial Syndrome
High palate, Hypocholesterolemia, Constipation, Intestinal malrotation OMIM:244450
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic transaminase, Hypertr... OMIM:608594
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Vomiting, Elevated circulating glutaric acid concentration, Nausea, Hepat... OMIM:231680
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Alg12-Cdg
Gastroesophageal reflux, Intestinal malrotation, Elevated hepatic transaminase, Hypocholesterolem... ORPHA:79324
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Acute hepatic failure, Elevated... ORPHA:99901
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatitis, Elevated hepa... OMIM:269700
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:212138
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
H Syndrome
Malabsorption, Hypertriglyceridemia, Hepatosplenomegaly ORPHA:168569
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... ORPHA:189439
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Vom... OMIM:277900
Dubowitz Syndrome
High palate, Gastroesophageal reflux, Velopharyngeal insufficiency, Episodic vomiting, Hypocholes... OMIM:223370
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Vomiting OMIM:210200
Combined Oxidative Phosphorylation Deficiency 12
Cleft palate, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Aromatase Deficiency
Hyperlipidemia, Hepatic steatosis ORPHA:91
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased liver function, Colitis, Splenomegaly, He... ORPHA:2442
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Reduced ... OMIM:118450
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure OMIM:615438
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis OMIM:616263
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transamina... OMIM:232200
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Gastroesophageal reflux, ... OMIM:270400
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hypoproteinemia, Splenome... ORPHA:167
Familial Multiple Lipomatosis
Hyperlipidemia, Functional intestinal obstruction ORPHA:199276
Wilson Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepa... ORPHA:905
Fructose Intolerance, Hereditary
Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Vomiting, Elevated hepat... OMIM:229600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Pancreatitis, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis OMIM:236200
Mandibuloacral Dysplasia Progeroid Syndrome
High palate, Hepatomegaly, Elevated hemoglobin A1c, Macrovesicular hepatic steatosis, Elevated he... OMIM:619127
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Gastroesophageal reflux, High, narrow palate, Morphological abnormality of the gastrointestinal t... ORPHA:369837
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Hypertriglyceridemia, Narrow palate, Long uvula ORPHA:536532
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hepatic fibr... OMIM:619487
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nit... OMIM:235400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:615356
Adrenomyodystrophy
Abnormal intestine morphology, Hepatic steatosis ORPHA:977
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, S... ORPHA:699
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Decreased liver function, Hypocalcemia, Gastroesophageal reflux, Intestinal malrotat... OMIM:613658
Monosomy 13Q34
Infantile hypercalcemia, Hepatic steatosis, Hematochezia ORPHA:96168
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Pylor... ORPHA:93111
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormality of the gastrointestina... ORPHA:439232
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase co... ORPHA:565612
Lipodystrophy, Familial Partial, Type 7
Diarrhea, Vomiting, Hypertriglyceridemia, Recurrent pancreatitis, Hypercholesterolemia, Dysphagia OMIM:606721
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hypoal... OMIM:618329
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Macroglossia, Splenomegaly, ... OMIM:256040
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
D-Bifunctional Protein Deficiency
High palate, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct pr... OMIM:261515
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Gastroesophageal reflux, Episodic vomiting, Bifid uvula, Elevated hepat... ORPHA:2959
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Bloody diarrhea, Hepatomegaly, Hematemesis, Splenom... OMIM:615846
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure OMIM:231530
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Diarrhea, Episodic vomiting, Acu... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macroglossia, Splenomegaly, Macrovesicular hepatic steatosis, Hypoalbuminemia OMIM:617303
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia, Calcinosis OMIM:248370
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Vomiting... OMIM:203700
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Hyperlipidemia OMIM:608612
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Hyperlipidemia ORPHA:90153
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypocalcemia ORPHA:746
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... ORPHA:66634
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Hyperlipidemia, Pancreatitis ORPHA:1830
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Gastroesophageal reflux, Vomiting, Elevated hepatic transaminase, Methylmalonic aci... ORPHA:17
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Diffuse hepatic steatosis, Vomiting, Hepatomegaly, Decreased liver function ORPHA:436271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Micronodular cirrhosis, Hepatomegaly, Splenomegaly, Impaired or... ORPHA:404454
Atypical Werner Syndrome
Hypertriglyceridemia, Neoplasm of the small intestine, Hepatic steatosis ORPHA:79474
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Cholestatic liver disease, Hyperlipidemia, High, narrow palate, Cirrhosis, Inflammat... ORPHA:99413
Turner Syndrome
High palate, Cholestatic liver disease, Hyperlipidemia, High, narrow palate, Cirrhosis, Inflammat... ORPHA:881
Mosaic Monosomy X
High palate, Cholestatic liver disease, Hyperlipidemia, High, narrow palate, Cirrhosis, Inflammat... ORPHA:99228
Monosomy X
High palate, Cholestatic liver disease, Hyperlipidemia, High, narrow palate, Cirrhosis, Inflammat... ORPHA:99226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Diar... OMIM:618278
Visceral Steatosis, Congenital
Hypocalcemia, Hepatic steatosis, Jaundice OMIM:228100
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Azotemia, Hepatic steatosis, Cleft soft palate OMIM:619321
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Elevated circulating aspartate aminotransfer... OMIM:619525
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Bloom Syndrome
Elevated hemoglobin A1c, Hepatic steatosis OMIM:210900
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Microvesicular hepatic steatosis, Cholestasis, Elevated hepatic transam... OMIM:124000
Intellectual Developmental Disorder, Autosomal Dominant 68
Gastroesophageal reflux, Constipation, Hepatic steatosis, High palate OMIM:619934
Wiedemann-Rautenstrauch Syndrome
Dysphagia, Hypertriglyceridemia OMIM:264090
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Constipation, Jaundice, Hyperbilirubinemia, High, narrow palate, Short uvula, Vomiti... OMIM:619475
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Wiedemann-Rautenstrauch Syndrome
Submucous cleft soft palate, Hypertriglyceridemia, Hepatic steatosis ORPHA:3455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
High palate, Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Elevated hepatic iron con... OMIM:300868
1P36 Deletion Syndrome
Annular pancreas, Gastroesophageal reflux, Constipation, Abnormality of the spleen, Pyloric steno... ORPHA:1606
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Ogden Syndrome
High palate, Narrow palate, Microvesicular hepatic steatosis, Hyperbilirubinemia, Diarrhea, Vomit... OMIM:300855
Fabry Disease
Achalasia, Malabsorption, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Decreased liver function, Hepatomegaly, Increased hepatocellular lipid droplets OMIM:220110
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Elevated hepatic transaminase, Hyponatremia, Gastrointestinal dysmotility, Celiac... ORPHA:293987
Alström Syndrome
Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Splenomeg... ORPHA:64
Digeorge Syndrome
Cholelithiasis, High palate, Hypocalcemia, Gastroesophageal reflux, High, narrow palate, Cleft pa... OMIM:188400
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Hypomagnesemia, Hypocalcemia, Hepatosplenomegaly, Cholestasis, Esophageal varix, Por... OMIM:619503

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 Tm6sf2

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 Tm6sf2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins. The Journal of biological chemistry (March 2016) Tm6sf2tm1a(KOMP)Wtsi PMC4865914

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tm6sf2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tm6sf2tm45537(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tm6sf2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tm6sf2em3(IMPC)H Exon Deletion Mice
Tm6sf2em1(IMPC)H Indel Mice
Tm6sf2em4(IMPC)H Exon Deletion Mice
Tm6sf2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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