LPL - lipoprotein lipase Gene

Also Known as LIPD; HDLCQ11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4023

About LPL

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:19,939,253-19,967,259 (from NCBI)

This gene has 8 transcripts (splice variants), 244 orthologues, 9 paralogues and is associated with 4 phenotypes. Biased expression in fat (RPKM 753.5) and heart (RPKM 154.2).

Summary

LPL encodes lipoprotein Lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]

LPL Products (1)

mRNA Protein Name
NM_000237.3 NP_000228.1 lipoprotein lipase precursor
Molecular Function GO Annotation Evidence References Source
enables apolipoprotein binding IPI
IPI: Inferred from physical interaction
15178420 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
16179346 GOA
enables heparan sulfate proteoglycan binding IMP
IMP: Inferred from mutant phenotype
11342582 GOA
enables heparin binding IDA
IDA: Inferred from direct assay
2110364 GOA
enables lipoprotein lipase activity IDA
IDA: Inferred from direct assay
2110364 GOA
enables lipoprotein lipase activity IMP
IMP: Inferred from mutant phenotype
25149060 GOA
enables lipoprotein particle binding IDA
IDA: Inferred from direct assay
11342582 GOA
enables phospholipase A1 activity IDA
IDA: Inferred from direct assay
7592706 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20124439 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
16179346 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
10085125 GOA
enables triacylglycerol lipase activity IDA
IDA: Inferred from direct assay
182536 GOA
Biological Process GO Annotation Evidence References Source
involved in cholesterol homeostasis IMP
IMP: Inferred from mutant phenotype
25149060 GOA
involved in chylomicron remodeling IMP
IMP: Inferred from mutant phenotype
11342582 GOA
involved in fatty acid biosynthetic process IDA
IDA: Inferred from direct assay
182536 GOA
involved in fatty acid metabolic process IDA
IDA: Inferred from direct assay
11342582 GOA
involved in low-density lipoprotein particle mediated signaling IMP
IMP: Inferred from mutant phenotype
25149060 GOA
involved in positive regulation of adipose tissue development IMP
IMP: Inferred from mutant phenotype
31769250 GOA
involved in positive regulation of chemokine production IMP
IMP: Inferred from mutant phenotype
25149060 GOA
involved in positive regulation of cholesterol storage IMP
IMP: Inferred from mutant phenotype
12573449 GOA
involved in positive regulation of fat cell differentiation IMP
IMP: Inferred from mutant phenotype
29794473 GOA
involved in positive regulation of sequestering of triglyceride IMP
IMP: Inferred from mutant phenotype
12573449 GOA
involved in triglyceride catabolic process IDA
IDA: Inferred from direct assay
182536 GOA
involved in triglyceride homeostasis IGI
IGI: Inferred from genetic interaction
17018885 GOA
involved in very-low-density lipoprotein particle remodeling IDA
IDA: Inferred from direct assay
3973011 GOA
Cellular Component GO Annotation Evidence References Source
part of catalytic complex IPI
IPI: Inferred from physical interaction
30559189 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
2340307 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LPL Protein Structure

Lipase

Lipase: Lipase (30 - 338)

PLAT

PLAT: PLAT/LH2 domain (343 - 462)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 475 a.a.
Protein Preferred Names Protein Names

lipoprotein lipase

  • phospholipase A1

LPL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
LPL P06858 PRMT5 Homo sapiens O14744 32814053
Intra
LPL P06858 PRMT5 Homo sapiens O14744 32814053
Intra
LPL P06858 PRMT5 Homo sapiens O14744 32814053
Intra
LPL P06858 GPIHBP1 Homo sapiens Q8IV16 20124439
Cross: Cross-species interaction Intra: Intraspecies interaction

LPL Antibodies

Cat. No. Product Name Application Reactivity
HY-P81831 Lipoprotein Lipase Antibody (YA1576) WB, IHC-P Human
HY-P85262 Lipoprotein Lipase Antibody (YA4954) WB; IHC-P; IHC-F; IF-Tissue Human

Related Diseases

Diseases Alias
Hyperlipoproteinemia, Type I
  • Lipoprotein Lipase Deficiency

  • Familial Chylomicronemia Syndrome

  • Lpl Deficiency

  • Hyperchylomicronemia, Familial

  • Hyperlipemia, Idiopathic, Burger-Grutz Type

  • Hyperlipemia, Essential Familial

  • Lipase D Deficiency

  • Lipd Deficiency

  • Hyperlipoproteinemia, Type Ia

  • Chylomicronemia, Familial

  • High Density Lipoprotein Cholesterol Level Qtl 11

  • Hyperlipoproteinemia Type 1

  • Hyperlipoproteinemia 1

  • HLPP1

  • Lipoprotein Lipase

  • Hyperlipoproteinemia Type I

  • Familial Hyperchylomicronemia Syndrome

Hyperlipidemia, Familial Combined, 3
  • Familial Combined Hyperlipidemia

  • Combined Hyperlipidemia, Familial

  • Mixed Hyperlipidaemia

  • FCHL3

  • Hyperlipidemia, Familial Combined

  • Familial Multiple Lipoprotein-Type Hyperlipidemia

  • Hyperbetalipoproteinemia With Prebetalipoproteinemia

  • Type Iib Hyperlipoproteinemia

  • Hyperlipidemia Familial Combined

  • Hyperlipoproteinemia Type Iib

  • Mixed Hyperlipemia

  • Hyperlipidaemia, Group C

  • Familial Hypercholesterolaemia With Hyperlipaemia

  • Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia

  • Hyperbetalipoproteinaemia With Prebetalipoproteinaemia

  • Hypercholesterolaemia With Endogenous Hyperglyceridaemia

  • Prebetalipoproteinemia Hyperbetalipoproteinaemia

  • Remnant Hyperlipoproteinemia

Familial Lipoprotein Lipase Deficiency
  • Familial Lpl Deficiency

  • Familial Hyperchylomicronemia

  • Hyperlipoproteinemia Type I

  • Familial Hyperlipoproteinemia Type I

  • Hyperchylomicronemia

  • Burger-Grutz Syndrome

  • Endogenous Hypertriglyceridaemia

  • Familial Fat-Induced Hypertriglyceridemia

  • Lipd Deficiency

  • Lpl Deficiency

  • Lipase D Deficiency

  • Lipoprotein Lipase Deficiency, Familial

  • Familial Chylomicronemia Syndrome

  • Fredrickson Type I Hyperlipoproteinemia

  • Fredrickson Type I Lipaemia

  • Hypercholesterinaemic Xanthomatosis

  • Mixed Hyperglyceridemia

  • Lipoprotein Lipase Deficiency

  • Type I Hyperlipoproteinemia

  • Hyperlipoproteinemia Type Ia

  • Familial Hyperlipo-Proteinemia Type 1

Hyperlipidemia, Familial Combined, 1
  • Hyperlipidemia, Familial Combined, Susceptibility To

  • Hyperlipidemia, Combined, 1

  • Hyperlipidemia, Familial Combined

  • FCHL1

  • Hyplip1

  • Familial Combined Hyperlipidemia Type 1

  • Hyperlipidemia Combined, 1

  • Hyperlipoproteinemia Type Iib

Familial Hyperlipidemia
  • Familial Hyperlipoproteinemia

  • Hyperlipidaemia

  • Hyperlipoproteinemias

  • Hyperlipidemia

  • Hyperlipemia

  • Hyperlipidemias

Acute Pancreatitis
  • Pancreatitis

  • Pancreatitis, Acute Necrotizing

  • Pancreatitis Nos

  • Acute Pancreas Inflammation

Hypolipoproteinemia
  • Hypolipoproteinaemia

  • Lipoprotein Deficiencies

  • Lipoprotein Disorder

  • Hypolipoproteinemias

  • Lipoprotein

  • Lipoprotein Deficiency

  • Hypolipidaemia

  • Lipoprotein Deficiency Disorder

  • High-Density Lipoid Deficiency

  • High-Density Lipoprotein Deficiency

  • Dyslipidaemia, Depressed Hdl Cholesterol

Pancreatitis
  • Mumps Pancreatitis

Coronary Heart Disease 1
  • Coronary Heart Disease

  • Coronary Heart Disease, Susceptibility To, 1

  • Chds1

  • Coronary Heart Disease, Susceptibility To

  • CHD

  • Heart, Coronary, Disease, Susceptibility To, Type 1

  • Coronary Arteriosclerosis

  • Coronary Artery Disease

Hypertriglyceridemia 1
  • Hypertriglyceridemia

  • Hypertriglyceridemia, Familial

  • Hypertriglyceridemia, Susceptibility To

  • HYTG1

  • FHTR

  • Hypertriglyceridemias Familial

Lipase Deficiency, Combined
  • Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency

  • Lpl And Htgl Deficiency

  • Lpl And Hl Deficiency

  • Familial Lipase Maturation Factor 1 Deficiency

  • Lipase Deficiency Combined

  • Combined Lipase Deficiency

  • Familial Lmf1 Deficiency

  • CLD

Abetalipoproteinemia
  • Acanthocytosis

  • ABL

  • Bassen-Kornzweig Syndrome

  • Mtp Deficiency

  • Familial Hypobetalipoproteinemia

  • Abetalipoproteinaemia

  • Microsomal Triglyceride Transfer Protein Deficiency

  • Microsomal Triglyceride Transfer Protein Deficiency Disease

  • Abetalipoproteinemia Neuropathy

  • Apolipoprotein B Deficiency

  • Bassen-Kornzweig Disease

  • Betalipoprotein Deficiency Disease

  • Congenital Betalipoprotein Deficiency Syndrome

  • Homozygous Familial Hypobetalipoproteinemia

  • Fhbl

  • Bassen Kornzweig Syndrome

  • Hypobetalipoproteinemia, Familial

  • Hypobetalipoproteinemia

  • Hypobetalipoproteinemias

  • Hypobetalipoproteinemia, Familial, Apolipoprotein B

Hyperlipoproteinemia, Type Iii
  • Hyperlipoproteinemia Type Iii

  • Broad-Betalipoproteinemia

  • Floating-Betalipoproteinemia

  • Familial Type 3 Hyperlipoproteinemia

  • Broad Beta Disease

  • Familial Hyperbeta- And Prebetalipoproteinemia

  • Familial Hypercholesterolemia With Hyperlipemia

  • Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis

  • Coronary Artery Disease, Severe, Susceptibility To

  • Coronary Artery Disease, Severe

  • Hyperlipidemia Type 3

  • Familial Dysbetalipoproteinemia

  • Hyperlipoproteinemia Type 3

  • Coronary Artery Disease

  • Apolipoprotein E, Deficiency Or Defect Of

  • Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D

  • Carbohydrate Induced Hyperlipemia

  • Familial Hypercholesterolaemia With Hyperlipaemia

  • Remnant Hyperlipidemia

  • Remnant Removal Disease

  • Dysbetalipoproteinemia

  • Broad-Beta Disease

  • Familial Dyslipidemia Type 3

  • Hlp Type 3

  • Remnant Hyperlipoproteinemia

  • Familial Hyperlipoproteinemia Type Iii

  • CAD

  • Hyperlipoproteinemia 3

  • HLPP3

  • Deficiency Or Defect Of Apolipoprotein E

  • Dysbetalipoproteinemia Due To Defect In Apolipoprotein E

  • Coronary Arteriosclerosis

  • Coronary Heart Disease

Hypoalphalipoproteinemia
Familial Hypercholesterolemia
  • Hyperlipoproteinemia Type Iia

  • Familial Hyperbetalipoproteinaemia

  • Familial Hypercholesteremia

  • Fredrickson Type Iia Hyperlipoproteinemia

  • Fredrickson Type Iia Lipidaemia

  • Hyperbetalipoproteinemia

  • Type Ii Hyperlipidemia

  • Familial Hypercholesterolæmia

  • Familial Hypercholesterolaemia

  • Fh

  • Hypercholesterolemia Familial

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

Uremia
  • Uremia Of Renal Origin

Biotinidase Deficiency
  • Late-Onset Multiple Carboxylase Deficiency

  • BTD DEFICIENCY

  • Multiple Carboxylase Deficiency, Late-Onset

  • Multiple Carboxylase Deficiency, Juvenile-Onset

  • Juvenile-Onset Multiple Carboxylase Deficiency

  • Biotin Deficiency

  • Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

  • Deficiency Of Biotinidase

  • Biot

  • Carboxylase Deficiency, Multiple, Late-Onset

  • Late-Onset Mcd

  • Mcd Juvenile Form

  • Biotin Deficiency Disease

Glucose Intolerance
  • Glucose: Intolerance

  • Glucose: Malabsorption

  • Malabsorption Of Glucose

  • Impaired Glucose Tolerance

Apolipoprotein C-Ii Deficiency
  • Apoc2 Deficiency

  • Hyperlipoproteinemia, Type Ib

  • Apolipoprotein C-Ii

  • C-Ii Anapolipoproteinemia

  • Hyperlipoproteinemia 1b

  • HLPP1B

  • Hyperlipoproteinemia Type Ib

  • Apolipoprotein C-Ii Variant

  • Apolipoprotein C2 Deficiency

  • Familial Apolipoprotein C-Ii Deficiency

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Hyperlipoproteinemia, Type V
  • Hyperlipoproteinemia Type V

  • Hyperchylomicronemia, Late-Onset

  • Familial Type 5 Hyperlipoproteinemia

  • Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial

  • Hyperlipidemia, Type V

  • Hyperlipemia, Mixed

  • Hyperlipemia, Combined Fat And Carbohydrate-Induced

  • Familial Hyperlipoproteinemia Type V

  • Fredrickson Type V Lipaemia

  • Hyperlipoproteinemia Type 5

  • Hyperchylomicronemia Late Onset

  • Hyperlipemia Combined Fat And Carbohydrate-Induced

  • Hyperlipemia Mixed

  • Hyperlipidemia Type V

  • Mixed Hyperlipemia

  • Type V Hyperlipoproteinemia

  • Hyperlipoproteinemia 5

  • HLPP5

  • Hyperlipidemia, Familial Combined

  • Mixed Hyperlipidemia

Hyperalphalipoproteinemia 1
  • Hyperalphalipoproteinemia

  • HALP1

  • Cetp Deficiency

  • Cholesterol-Ester Transfer Protein Deficiency

  • Familial Hyperalphalipoproteinemia

  • Cholesteryl Ester Transfer Protein Deficiency

  • Cept Deficiency

  • Cholesterol Ester Transfer Protein Deficiency

Alcoholic Pancreatitis
  • Pancreatitis, Alcoholic

  • Pancreatitis Alcoholic

Lecithin:Cholesterol Acyltransferase Deficiency
  • Norum Disease

  • Lcat Deficiency

  • Familial Lcat Deficiency

  • Fld

  • Lecithin Acyltransferase Deficiency

  • Complete Lcat Deficiency

  • Lecithin Cholesterol Acyltransferase Deficiency

  • Lecithin-Cholesterol Acyltransferase Deficiency

  • Familial Lecithin-Cholesterol Acyltransferase Deficiency

  • Norum'S Disease

  • LCATD

  • Deficiency, Lecithin:Cholesterol Acyltransferase

Cerebrovascular Disease
  • Cerebrovascular Disorder

  • Cerebrovascular Accident

  • Cerebrovascular Disorders

  • Cva

  • Stroke

Abdominal Obesity-Metabolic Syndrome 1
  • Metabolic Syndrome X

  • Metabolic Syndrome

  • AOMS1

  • Dysmetabolic Syndrome X

  • Metabolic Disease

  • Abdominal Obesity Metabolic Syndrome

Glycogen Storage Disease Ia
  • Von Gierke Disease

  • Glycogen Storage Disease Type I

  • Glycogen Storage Disease I

  • Hepatorenal Form Of Glycogen Storage Disease

  • Hepatorenal Glycogenosis

  • Glucose-6-Phosphatase Deficiency

  • Glycogen Storage Disease, Type I

  • Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

  • GSD1A

  • Gsd1

  • Von Gierke'S Disease

  • Glycogen Storage Disease Type 1a

  • Glycogen Storage Disease 1a

  • Glucose-6-Phosphate Transport Defect

  • Gsd Ia

  • Deficiency Of Glucose-6-Phosphatase

  • Glycogenosis Type I

  • Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

  • Glycogenosis Type 1

  • Glucose-6-Phosphate Deficiency

  • Gsd I

  • Gsd Type I

  • G6p Deficiency Type 1a

  • Gsd Due To G6p Deficiency Type 1a

  • Gsd Due To G6p Deficiency Type Ia

  • Gsd Type 1a

  • Gsdia

  • Glycogen Storage Disease Due To G6p Deficiency Type Ia

  • Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

  • Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

  • Glycogenosis Type Ia

  • Gsd-Ia

  • Storage Disease, Glycogen, Type 1a

  • Glycogen Storage Disease Type Ia

Xanthomatosis
  • Xanthomatosis, Susceptibility To

  • Xanthelasmatosis

Hyperglycemia
Coronary Stenosis
  • Coronary Artery Stenosis

Non-Alcoholic Fatty Liver Disease
  • Fatty Liver

  • Non-Alcoholic Fatty Liver

  • Nafld

  • Nonalcoholic Fatty Liver Disease

  • Nonalcoholic Steatohepatitis

  • Steatosis

  • Nafl

  • Nash

  • Non-Alcoholic Steatohepatitis

  • Susceptibility To Nonalcoholic Fatty Liver Disease

  • Steatohepatitis

  • Fatty Degeneration

  • Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

  • Nafld Without Nash

  • Nafld Without Mention Of Nash

Hyperlipoproteinemia, Type Iv
  • Hyperlipoproteinemia Type Iv

  • Carbohydrate-Inducible Hyperlipemia

  • Endogenous Hyperlipidaemia

  • Familial Hypertriglyceridemia

  • Fredrickson Type Iv Hyperlipoproteinemia

  • Fredrickson Type Iv Lipidaemia

  • Fredrickson Type Iv Lipidemia

  • Vldl Hyperlipoproteinemia

  • Hyperlipoproteinemia Type 4

  • Carbohydrate Inducible Hyperlipemia

  • Familial Type Iv Hyperlipoproteinemia

  • Familial Hyperlipoproteinemia Type Iv

Atherosclerosis Susceptibility
  • Atherosclerosis

  • Atherosclerosis, Susceptibility To

  • ATHS

  • Atherogenic Lipoprotein Phenotype

  • Alp

  • Arteriosclerosis

Tangier Disease
  • Analphalipoproteinemia

  • High Density Lipoprotein Deficiency, Tangier Type

  • TGD

  • High Density Lipoprotein Deficiency, Type 1

  • Hdldt1

  • Familial High Density Lipoprotein Deficiency

  • A-Alphalipoprotein Neuropathy

  • Alpha High Density Lipoprotein Deficiency Disease

  • Cholesterol Thesaurismosis

  • Familial High Density Lipoprotein Deficiency Disease

  • Hdl Lipoprotein Deficiency Disease

  • Tangier Disease Neuropathy

  • Familial Alpha-Lipoprotein Deficiency

  • Familial High-Density Lipoprotein Deficiency 1

  • Primary Hypoalphalipoproteinemia 1

  • Analphalipo-Proteinemia

  • Familial Hypoalphalipo-Proteinemia

  • Familial Hypoalphalipoproteinemia

  • Lipoprotein Deficiency Disease, Hdl, Familial

  • Tangier Hereditary Neuropathy

  • Atp-Binding Cassette Transporter A1 Deficiency

  • Hdld1

  • High Density Lipoprotein Deficiency 1

  • Tangier Disease, Variant

  • Hypoalphalipoproteinemia, Familial

  • Familial Hdl Deficiency

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Leptin Deficiency Or Dysfunction
  • Morbid Obesity

  • Obesity Due To Congenital Leptin Deficiency

  • LEPD

  • Congenital Leptin Deficiency

  • Obesity, Morbid

  • Obesity, Morbid, Due To Leptin Deficiency

  • Severe Obesity

  • Obesity, Morbid, Nonsyndromic 1

  • Leptin Deficiency

  • Obesity, Severe, Due To Leptin Deficiency

  • Leptin

  • Morbid Obesity Due To Leptin Deficiency

  • Obesity Morbid

  • Leptin Dysfunction

Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Anomaly

  • Coronary Artery Disease, Susceptibility To

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

Familial Partial Lipodystrophy
  • Lipodystrophy, Familial Partial

  • Fpld

  • Kobberling-Dunnigan Syndrome

  • Dunnigan Syndrome

  • Koberling-Dunnigan Syndrome

  • Dunnigan-Kobberling Syndrome

  • Fpl

  • Familial Partial Lipodystrophy, Type 2

Hyperinsulinism
  • Hyperinsulinemia

Familial Apolipoprotein C-Ii Deficiency
  • Familial Apoc-Ii Deficiency

  • Familial Apoc2 Deficiency

  • C-Ii Anapolipoproteinemia

  • Hyperlipoproteinemia, Type 1b

  • Hyperlipoproteinemia, Type Ib

  • Hyperlipoproteinemia Type I

Intermittent Claudication
  • Charcot'S Syndrome

  • Amyotrophic Lateral Sclerosis

Vascular Disease
  • Vascular Diseases

  • Aneurysm

  • Spinal Cord Ischemia

  • Vascular Anomaly

  • Spinal Cord Vascular Diseases

  • Vascular Tissue Disease

Cardiovascular System Disease
  • Abnormality Of The Cardiovascular System

  • Cardiovascular Disease

  • Disease Of Subdivision Of Hemolymphoid System

  • Disorder Of Cardiovascular System

  • Cardiovascular Diseases

Hypobetalipoproteinemia, Familial, 2
  • Familial Hypobetalipoproteinemia 2

  • FHBL2

  • Hypolipidemia, Familial, Combined

  • Combined Familial Hypolipidemia

  • Combined Hypobetalipoproteinemia Familial

  • Hypobetalipoproteinemia, Familial, Type 2

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Apolipoprotein C-Iii Deficiency
  • Hyperalphalipoproteinemia 2

  • HALP2

Glycogen Storage Disease
  • Glycogenosis

  • Glycogenoses

  • Gsd

  • Storage Disease, Glycogen

  • Gsd - [Glycogen Storage Disease]

  • Glycogen Thesaurismosis

  • Diffuse Glycogenosis

  • Generalised Glycogen Storage Disease

  • Generalised Glycogenosis

  • Generalised Glycogen Storage Disease Of Infants

  • Glycogen Synthase Deficiency

Diabetes Mellitus
  • Diabetes

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Prediabetes Syndrome
  • Prediabetes

  • Impaired Glucose Tolerance

  • Prediabetic State

  • IGT

  • Igt - [Impaired Glucose Tolerance]

  • Impaired Glucose Tolerance With Unspecified Complication

  • Impaired Glucose Tolerance Without Complication

  • Abnormal Glucose Tolerance

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Hypercholesterolemia, Familial, 1
  • Hypercholesterolemia

  • FHCL1

  • Fhc

  • Fh

  • Hyperlipoproteinemia, Type Ii

  • Hyperlipoproteinemia, Type Iia

  • Hyper-Low-Density-Lipoproteinemia

  • Hypercholesterolemic Xanthomatosis, Familial

  • Ldl Receptor Disorder

  • Hypercholesterolemia, Susceptibility To

  • Hypercholesterolemia, Familial, Modifier Of

  • Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

  • Ldl Cholesterol Level Qtl2

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial, Type 1

  • High Cholesterol

  • Increased Cholesterol

  • Low-Density-Lipoid-Type Hyperlipoproteinemia

  • Pure Hypercholesterolaemia

  • Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

  • Group A Hyperlipidaemia

  • Pure Hypercholesterinaemia

  • Cholesterolaemia

  • Essential Cholesterolaemia

  • Essential Hypercholesterolaemia

  • Group A Hyperlipemia

  • Increased Low Density Lipoprotein

  • Low-Density-Lipoprotein-Type

  • Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Adenosine Deaminase Deficiency
  • Ada Deficiency

  • Ada-Scid

  • Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

  • Adenosine Deaminase Deficient Severe Combined Immunodeficiency

  • Scid Due To Ada Deficiency

  • Severe Combined Immunodeficiency Due To Ada Deficiency

  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

  • Ada

  • Scid Due To Adenosine Deaminase Deficiency

Platelet Glycoprotein Iv Deficiency
  • Platelet-Type Bleeding Disorder 10

  • Bdplt10

  • Cd36 Deficiency

  • Bleeding Disorder, Platelet-Type, 10

  • PG4D

  • Bleeding Disorder Platelet-Type 10

  • Deficiency, Platelet Glycoprotein Iv

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Hypoalphalipoproteinemia, Primary, 1
  • Familial Hdl Deficiency

  • Fha

  • High Density Lipoprotein Deficiency

  • Familial Hypoalphalipoproteinemia

  • Hypoalphalipoproteinemia, Familial

  • Hdld

  • Fhd

  • Hdl Deficiency, Type 2

  • Primary Hypoalphalipoproteinemia 1

  • Hdl Cholesterol, Low Serum

  • Hdlc

  • Hdl Deficiency, Familial, 1

  • Hypoalphalipoproteinemia, Primary

  • Low Serum Hdl Cholesterol

  • Primary Hypoalphalipoproteinemia

  • FHA1

  • Hdld2

  • High Density Lipoprotein Deficiency 2

  • Hypoalphalipoproteinemias

  • Apolipoprotein A-I Deficiency

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Hypobetalipoproteinemia, Familial, 1
  • Hypobetalipoproteinemia

  • Familial Hypobetalipoproteinemia 1

  • Familial Hypobetalipoproteinemia

  • FHBL1

  • Hypobetalipoproteinemia, Familial

  • Fhbl

  • Acanthocytosis With Hypobetalipoproteinemia

  • Hypobetalipoproteinemias

  • Hypobetalipoproteinemia, Normotriglyceridemic

  • Hypo-Beta-Lipoproteinemia

  • Hypobetalipoprotéinemia, Familial

  • Normotriglyceridemic Hypobetalipoproteinemia

  • Hypobetalipoproteinemia, Familial, Type 1

Aortic Atherosclerosis
  • Atherosclerosis Of Aorta

  • Aorta Atheroma

  • Aorta Calcification

  • Aorta Arteriosclerosis

  • Aortic Degeneration

  • Aortic Calcification

  • Aortic Atheroma

  • Aortic Arteriosclerotic Disease

  • Aortic Arteriosclerosis

  • Aorta Sclerosis

  • Aorta Degeneration

  • Atheromatous Aortic

  • Calcified Aortic Stenosis

  • Atheromatous Aorta

  • Arteriosclerotic Aortitis

  • Arteriosclerotic Aortic Stenosis

  • Arteriosclerotic Aorta Disease

  • Aortic Sclerosis

Hemophilia B
  • Christmas Disease

  • Factor Ix Deficiency

  • F9 Deficiency

  • HEMB

  • Plasma Thromboplastin Component Deficiency

  • Congenital Factor Ix Deficiency

  • Mild Hemophilia B

  • Severe Hemophilia B

  • Congenital Factor Ix Disorder

  • Deficiency, Functional Factor Ix

  • Hem B

  • Mild Congenital F9 Deficiency

  • Mild Congenital Factor Ix Deficiency

  • Moderate Hemophilia B

  • Moderate Congenital F9 Deficiency

  • Moderate Congenital Factor Ix Deficiency

  • Severe Congenital F9 Deficiency

  • Severe Congenital Factor Ix Deficiency

  • Bleeding Disorder In Hemophilia B Carriers

  • Congenital F9 Deficiency

  • Recessive X-Linked Hemophilia B

Lymphoproliferative Syndrome 1
  • LPFS1

  • Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1

  • Combined Immunodeficiency Due To Itk Deficiency

  • Autosomal Recessive Lymphoproliferative Disease Due To Itk Deficiency

  • Itk Deficiency

Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1

American Histoplasmosis
  • Infection By Histoplasma Capsulatum

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Aromatic L-Amino Acid Decarboxylase Deficiency
  • Aadc Deficiency

  • Dopa Decarboxylase Deficiency

  • Ddc Deficiency

  • Aromatic Amino Acid Decarboxylase Deficiency

  • Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

  • AADCD

  • Aromatic-L-Amino-Acid Decarboxylase Deficiency

  • Aromatic L-Amino-Acid Decarboxylase Deficiency

Overnutrition
Acquired Metabolic Disease
Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma