HLPP1
MCID: HYP768
MIFTS: 69

Hyperlipoproteinemia, Type I (HLPP1)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Hyperlipoproteinemia, Type I

MalaCards integrated aliases for Hyperlipoproteinemia, Type I:

Name: Hyperlipoproteinemia, Type I 57 28 5
Lipoprotein Lipase Deficiency 57 75 73 12 38
Familial Chylomicronemia Syndrome 11 58 28 14
Hyperlipemia, Idiopathic, Burger-Grutz Type 57 73
Hyperlipemia, Essential Familial 57 73
Hyperchylomicronemia, Familial 57 73
Hyperlipoproteinemia, Type Ia 57 73
Chylomicronemia, Familial 57 73
Lipase D Deficiency 57 73
Lipd Deficiency 57 73
Lpl Deficiency 57 73
High Density Lipoprotein Cholesterol Level Qtl 11 57
Familial Hyperchylomicronemia Syndrome 71
Hyperlipoproteinemia Type 1 19
Hyperlipoproteinemia Type I 71
Hyperlipoproteinemia 1 73
Lipoprotein Lipase 5
Hlpp1 73

Characteristics:


Inheritance:

Hyperlipoproteinemia, Type I: Autosomal recessive 57
Familial Chylomicronemia Syndrome: Autosomal recessive 58

Prevelance:

Familial Chylomicronemia Syndrome: 1-9/1000000 (United States, Europe) 58

Age Of Onset:

Familial Chylomicronemia Syndrome: Adolescent,Adult,Childhood,Infancy 58

Age Of Death:

Familial Chylomicronemia Syndrome: normal life expectancy 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Hyperlipoproteinemia, Type I

Orphanet: 58 A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas, and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.

MalaCards based summary: Hyperlipoproteinemia, Type I, also known as lipoprotein lipase deficiency, is related to apolipoprotein c-ii deficiency and lipase deficiency, combined. An important gene associated with Hyperlipoproteinemia, Type I is LPL (Lipoprotein Lipase), and among its related pathways/superpathways are Metabolism and Olfactory Signaling Pathway. The drugs Gastrointestinal Agents and Antiemetics have been mentioned in the context of this disorder. Affiliated tissues include pancreas, liver and skin, and related phenotypes are hypertriglyceridemia and increased circulating chylomicron concentration

UniProtKB/Swiss-Prot: 73 An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.

Disease Ontology: 11 A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.

Wikipedia: 75 Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for... more...

More information from OMIM: 238600

Related Diseases for Hyperlipoproteinemia, Type I

Diseases in the Hyperlipoproteinemia, Type Iii family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type I Hyperlipoproteinemia, Type Id

Diseases related to Hyperlipoproteinemia, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 419)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 32.3 LPL APOC2
2 lipase deficiency, combined 31.8 LPL LMF1 LIPG LIPC GPIHBP1 APOA5
3 familial apolipoprotein c-ii deficiency 31.5 LPL LMF1 GPIHBP1 APOC3 APOC2 ANGPTL3
4 acute pancreatitis 30.9 PNLIP LPL APOC2
5 pancreatitis 30.7 PNLIP LPL LMF1 APOC2 APOA5
6 hyperlipoproteinemia, type v 30.5 LPL APOE APOC3 APOC2 APOB APOA5
7 prediabetes syndrome 30.0 LPL LIPC APOB APOA1
8 apolipoprotein c-iii deficiency 30.0 LPL APOC3 APOA5
9 type 1 diabetes mellitus 30.0 LPL APOE APOB APOA1
10 cerebrovascular disease 30.0 LPL APOE APOB APOA1
11 homozygous familial hypercholesterolemia 30.0 PCSK9 APOB
12 hypoalphalipoproteinemia, primary, 2 30.0 APOC3 APOB APOA1
13 abdominal obesity-metabolic syndrome 1 29.8 MTTP LPL APOB
14 hypoalphalipoproteinemia 29.8 LPL LIPC APOC3 APOB APOA1
15 platelet glycoprotein iv deficiency 29.8 LPL APOE APOB
16 xanthomatosis 29.7 LPL APOE APOB
17 aortic atherosclerosis 29.6 LPL LIPG APOE APOB APOA1
18 familial lipoprotein lipase deficiency 29.4 PNLIP LPL LMF1 LIPG LIPC GPIHBP1
19 lecithin:cholesterol acyltransferase deficiency 29.4 LPL APOE APOB APOA1
20 nonobstructive coronary artery disease 29.4 APOE APOB APOA1
21 peripheral artery disease 29.3 PCSK9 APOE APOB
22 hypertension, essential 29.2 PCSK9 LPL APOE APOC3 APOB APOA1
23 fatty liver disease 29.2 MTTP APOE APOC3 APOB
24 hypercholesterolemia, familial, 1 29.1 PCSK9 LPL LIPC APOE APOB APOA1
25 coronary stenosis 29.0 PCSK9 LPL APOE APOB APOA1
26 tangier disease 29.0 LPL LIPG APOE APOB APOA1
27 hyperalphalipoproteinemia 1 28.9 LPL LIPC APOE APOC3 APOB APOA1
28 lipoprotein quantitative trait locus 28.8 LPL LIPC APOE APOC3 APOB APOA5
29 myocardial infarction 28.8 PCSK9 LPL LIPC APOE APOC3 APOB
30 abetalipoproteinemia 28.8 MTTP LPL APOE APOB APOA1
31 hyperlipoproteinemia, type iii 28.7 LPL LIPC APOE APOC2 APOB APOA5
32 hypothyroidism 28.6 PCSK9 LPL LIPC APOE APOB APOA1
33 hyperlipoproteinemia, type iv 28.6 LPL LMF1 GPIHBP1 APOE APOC3 APOC2
34 non-alcoholic fatty liver disease 28.5 MTTP LPL DGAT1 APOE APOC3 APOB
35 nephrotic syndrome 28.5 PCSK9 LPL APOE APOB APOA1 ANGPTL4
36 hypertriglyceridemia 1 28.5 LPL LIPC APOE APOC3 APOC2 APOB
37 vascular disease 28.4 MTTP LPL LIPC APOE APOC2 APOB
38 atherosclerosis susceptibility 28.2 PCSK9 LPL LIPG LIPC APOE APOC3
39 heart disease 28.1 PCSK9 LPL LIPC APOE APOB APOA5
40 coronary heart disease 1 28.0 PCSK9 MTTP LPL LIPC APOE APOC3
41 hyperlipidemia, familial combined, 3 27.9 PCSK9 LPL LMF1 LIPC GPIHBP1 APOE
42 hypoalphalipoproteinemia, primary, 1 27.8 LPL LMF1 LIPG LIPC APOE APOC3
43 hypolipoproteinemia 27.7 PCSK9 MTTP LPL LIPG APOE APOC3
44 familial hyperlipidemia 27.6 PCSK9 MTTP LPL LMF1 LIPC GPIHBP1
45 lipid metabolism disorder 27.6 PCSK9 MTTP LPL LIPG LIPC DGAT1
46 cardiovascular system disease 27.5 PCSK9 MTTP LPL LIPG LIPC APOE
47 body mass index quantitative trait locus 11 27.0 PNLIP MTTP LPL LIPG LIPC DGAT1
48 hypobetalipoproteinemia, familial, 1 27.0 PCSK9 MTTP LPL LMF1 LIPG GPIHBP1
49 familial hypercholesterolemia 27.0 PCSK9 MTTP LPL LMF1 LIPG LIPC
50 type 2 diabetes mellitus 26.9 PNLIP PCSK9 MTTP LPL LIPC DGAT1

Comorbidity relations with Hyperlipoproteinemia, Type I via Phenotypic Disease Network (PDN):


Hypertension, Essential Intermediate Coronary Syndrome

Graphical network of the top 20 diseases related to Hyperlipoproteinemia, Type I:



Diseases related to Hyperlipoproteinemia, Type I

Symptoms & Phenotypes for Hyperlipoproteinemia, Type I

Human phenotypes related to Hyperlipoproteinemia, Type I:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 30 Obligate (100%) Obligate (100%)
HP:0002155
2 increased circulating chylomicron concentration 30 Obligate (100%) HP:0012238
3 hepatosplenomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001433
4 acute pancreatitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001735
5 episodic abdominal pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002574
6 recurrent pancreatitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100027
7 lipemia retinalis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000660
8 hepatic steatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001397
9 eruptive xanthomas 58 30 Frequent (33%) Frequent (79-30%)
HP:0001013
10 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
11 nausea and vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002017
12 diabetes mellitus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000819
13 jaundice 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000952
14 memory impairment 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002354
15 pulmonary embolism 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002204
16 dementia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000726
17 abnormal emotion/affect behavior 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100851
18 perianal abscess 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009789
19 depression 30 Very rare (1%) HP:0000716
20 hyperlipidemia 58 30 Obligate (100%)
HP:0003077
21 depressivity 58 Very rare (<4-1%)
22 splenomegaly 30 HP:0001744
23 vomiting 30 HP:0002013
24 hypercholesterolemia 30 HP:0003124
25 decreased body weight 58 Occasional (29-5%)
26 pancreatitis 30 HP:0001733
27 nausea 30 HP:0002018
28 precocious atherosclerosis 58 Excluded (0%)
29 hyperchylomicronemia 58 Obligate (100%)
30 lactescent serum 30 HP:0031028

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
G I:
nausea and vomiting
splenomegaly
hepatosplenomegaly
pancreatitis
episodic abdominal pain
more
Lab:
hyperlipidemia
hypercholesterolemia
hyperchylomicronemia
hyperlipemia
fat-induced hyperlipemia
more
Cardiac:
no precocious atherosclerosis

Skin:
jaundice
eruptive xanthomas

Eyes:
lipemia retinalis

Clinical features from OMIM®:

238600 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased free cholesterol GR00340-A-2 9.28 ANGPTL4 APOA1 APOA5 APOB APOC3 APOE
2 Increased LDL uptake GR00340-A-1 8.96 APOA1 APOE

MGI Mouse Phenotypes related to Hyperlipoproteinemia, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.85 ANGPTL3 APOA1 APOB APOE DGAT1 LMF1
2 homeostasis/metabolism MP:0005376 9.55 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
3 adipose tissue MP:0005375 9.5 ANGPTL3 ANGPTL4 APOC3 APOE DGAT1 LPL

Drugs & Therapeutics for Hyperlipoproteinemia, Type I

Drugs for Hyperlipoproteinemia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Gastrointestinal Agents Phase 2, Phase 3
2 Antiemetics Phase 2, Phase 3
3 Protective Agents Phase 2, Phase 3
4 Neuroprotective Agents Phase 2, Phase 3
5
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
6 Lipid Regulating Agents Phase 2
7 Anti-Obesity Agents Phase 2
8
Asparaginase Escherichia coli Approved, Investigational 9015-68-3
9
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
10
Gastric inhibitory polypeptide Investigational 100040-31-1
11 Incretins
12 Fibrinolytic Agents
13 Calcium heparin
14 Anticoagulants

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 A Study to Determine the Safety and Efficacy in Lipoprotein Lipase-Deficient Subjects After Intramuscular Administration of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein LipaseS447X Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
2 ISIS 304801-CS7 The APPROACH Open Label Study Volanesorsen (ISIS 304801) An Open-Label Study of Volanesorsen Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT02658175 Phase 3 Volanesorsen
3 An Open-label Study to Assess the Efficacy and Safety of Alipogene Tiparvovec (AMT-011), Human LPL [S447X], Expressed by an Adeno-Associated Viral Vector After Intramuscular Administration in LPL-deficient Adult Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
4 A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia Syndrome Completed NCT01514461 Phase 3 LCQ908;Placebo
5 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of ISIS 304801 Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT02211209 Phase 3 Volanesorsen;Placebo
6 An Open-Label Safety Study of AKCEA-APOCIII-LRX Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Previously Treated With Volanesorsen (ISIS 304801) Recruiting NCT05185843 Phase 3 Olezarsen
7 An Open-Label Extension Study of AKCEA-APOCIII-LRx Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT05130450 Phase 3 Olezarsen
8 A Phase 3 Study to Evaluate the Efficacy and Safety of ARO-APOC3 in Adults With Familial Chylomicronemia Syndrome Recruiting NCT05089084 Phase 3 ARO-APOC3;Placebo
9 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of AKCEA-APOCIII-LRx Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Active, not recruiting NCT04568434 Phase 3 Olezarsen;Placebo
10 An Open Label, 52-week, Safety and Tolerability Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3 LCQ908
11 A Phase 2 Pilot Study to Assess the Safety and Efficacy of CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2 CAT-2003;Placebo
12 A Phase 2 Open-Label Study to Assess the Pharmacodynamics, Pharmacokinetics, Safety and Tolerability of AKCEA-ANGPTL3-LRx (ISIS 703802) Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT03360747 Phase 2 AKCEA-ANGPTL3-LRx
13 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
14 An Open Label, Multi-centre Trial of Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
15 A Phase 1 Single and Multiple Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Effects of ARO-APOC3 in Adult Healthy Volunteers as Well as in Severely Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome Completed NCT03783377 Phase 1 ARO-APOC3;sterile normal saline (0.9% NaCl)
16 A Clinical Records Review Study of the Frequency and Severity of Acute Abdominal "Pancreatitis" Episodes Reported From LPLD Subjects Previously Recruited to Clinical Studies PREPARATION-02, CT-AMT-011-01 and CT-AMT-011-02 Unknown status NCT01448577
17 The Influence Of GIP (Glucose-Dependent Insulinotropic Polypeptide) Infusion On Hormone Sensitive Lipase, Lipoprotein Lipase And Adipokine Expression In Human Subcutaneous Adipose Tissue: An In Vivo Study Unknown status NCT00809029
18 Correlation of Polymorphisms of Lipoprotein Lipase (LpL) and Apolipoprotein E (Apo E) With Lipid Profile of Children With Acute Lymphoblastic Leukaemia During Therapy With L - Asparaginase Unknown status NCT04364451
19 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Completed NCT02656095 Heparin
20 Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes From a 10 Year Follow-up Linking Datasets Between Patient Medical Records and Patient Claims: the ESTHYM Study Completed NCT03912181
21 InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia Completed NCT04223908
22 Systematic Study of Post Herapin Lipoprotein Lipase Activity and Lipoprotein Remodelling in Multifactorial Chylomicronemia Completed NCT02933138
23 Lipoprotein Lipase Expression in Chronic Lymphocytic Leukemia Completed NCT01460238
24 An Open-label, Randomized, Single Center, Crossover Study in Healthy Participants to Assess Lipoprotein Lipase Activity and Levels, and Triglyceride Levels After Heparin Exposure, in Both Fasted and Postprandial State Completed NCT05178550 Early Phase 1 Heparin
25 Effects of Water-Based Exercise on Lipid Profile and Lipoprotein Lipase of Dyslipidemic Premenopausal Women: A Randomized Controlled Trial Completed NCT02418715
26 Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency Recruiting NCT04227678 Heparin
27 Glybera Registry, Long-term Safety and Efficacy Follow-up in Lipoprotein Lipase Deficient (LPLD) Patients Treated With Alipogene Tiparvovec (GLYBERA®) Active, not recruiting NCT03293810
28 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT03198897
29 Volanesorsen (ISIS 304801) Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) No longer available NCT03544060 Volanesorsen
30 Prospective, Non-interventional, Non-randomised, Open-label, Adult Study to Assess the Long Term Biological Therapeutic Response to Alipogene Tiparvovec in Lipoprotein Lipase Deficiency (LPLD) and Comparing Postprandial Chylomicron Metabolism Following a Radiolabeled Meal in LPLD Subjects Previously Treated With Alipogene Tiparvovec (Studies CT-AMT-011-01 or -02) to Untreated LPLD Subjects (Study PREPARATION-02) and to Healthy Volunteers Terminated NCT01447901

Search NIH Clinical Center for Hyperlipoproteinemia, Type I

Genetic Tests for Hyperlipoproteinemia, Type I

Genetic tests related to Hyperlipoproteinemia, Type I:

# Genetic test Affiliating Genes
1 Hyperlipoproteinemia, Type I 28 LPL
2 Familial Chylomicronemia Syndrome 28

Anatomical Context for Hyperlipoproteinemia, Type I

Organs/tissues related to Hyperlipoproteinemia, Type I:

MalaCards : Pancreas, Liver, Skin, Adipocyte, Skeletal Muscle, Bone Marrow, Endothelial

Publications for Hyperlipoproteinemia, Type I

Articles related to Hyperlipoproteinemia, Type I:

(show top 50) (show all 9951)
# Title Authors PMID Year
1
Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. 62 57 5
16174715 2005
2
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. 62 57 5
1674945 1991
3
Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency. 62 57 5
1969408 1990
4
Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome. 62 57
31390500 2019
5
Clinical and biochemical features of different molecular etiologies of familial chylomicronemia. 62 5
29748148 2018
6
Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis. 62 5
29921298 2018
7
Molecular and functional characterization of familial chylomicronemia syndrome. 62 5
29153744 2018
8
Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia. 62 5
29288010 2018
9
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease. 62 5
28267856 2017
10
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. 62 5
27573733 2016
11
Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach. 62 5
27206937 2016
12
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. 62 5
27055971 2016
13
Lipoprotein Lipase Deficiency (R243H) in a Type 2 Diabetes Patient with Multiple Arterial Aneurysms. 62 5
27150867 2016
14
Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene. 62 5
26337181 2015
15
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia. 62 5
25966443 2015
16
Targeting APOC3 in the familial chylomicronemia syndrome. 62 57
25470695 2014
17
A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis. 62 5
24646025 2014
18
Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency. 62 5
24291057 2014
19
Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations. 62 5
22095987 2012
20
Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees. 62 5
17476032 2007
21
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations. 62 5
16972177 2006
22
Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia. 62 5
15840743 2005
23
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 62 5
15877202 2005
24
Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes. 62 5
12655575 2003
25
Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. 62 5
12204001 2002
26
Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. 62 5
11334614 2001
27
Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis. 62 5
11134145 2000
28
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)). 62 5
10735636 2000
29
Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a chinese patient with hypertriglyceridemia. 62 5
10619999 2000
30
Newly identified missense mutation reduces lipoprotein lipase activity in Taiwanese patients with hypertriglyceridemia. 62 5
10560236 1999
31
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. 62 57
10199753 1999
32
Catalytically inactive lipoprotein lipase expression in muscle of transgenic mice increases very low density lipoprotein uptake: direct evidence that lipoprotein lipase bridging occurs in vivo. 62 5
9811888 1998
33
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. 62 57
9738727 1998
34
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. 62 5
9714430 1998
35
Assessment of French patients with LPL deficiency for French Canadian mutations. 62 5
9279761 1997
36
Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. 62 5
9401010 1997
37
A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase. 62 5
8858123 1996
38
The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. 62 5
8567671 1996
39
Hemolysis in primary lipoprotein lipase deficiency. 62 57
7752915 1995
40
Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis. 62 5
7818530 1995
41
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 62 5
8135797 1994
42
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. 62 5
7906986 1994
43
A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia). 62 5
8288243 1993
44
Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region. 62 5
8228642 1993
45
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 62 5
8325986 1993
46
Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene. 62 5
8486765 1993
47
Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene. 62 5
8099055 1993
48
A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia. 62 5
8096693 1993
49
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 62 5
1400331 1992
50
A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. 62 5
1530621 1992

Variations for Hyperlipoproteinemia, Type I

ClinVar genetic disease variations for Hyperlipoproteinemia, Type I:

5 (show top 50) (show all 189)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LPL NM_000237.3(LPL):c.607G>A (p.Ala203Thr) SNV Pathogenic
1519 rs118204056 GRCh37: 8:19811696-19811696
GRCh38: 8:19954185-19954185
2 LPL LPL, INS INSERT Pathogenic
1520 GRCh37:
GRCh38:
3 LPL nsv513798 DUP Pathogenic
1521 GRCh37:
GRCh38:
4 LPL LPL, 6-KB DEL DEL Pathogenic
1523 GRCh37:
GRCh38:
5 LPL NM_000237.3(LPL):c.811T>A (p.Ser271Thr) SNV Pathogenic
1525 rs118204059 GRCh37: 8:19813387-19813387
GRCh38: 8:19955876-19955876
6 LPL NM_000237.3(LPL):c.250-1G>A SNV Pathogenic
1526 rs1563572716 GRCh37: 8:19809279-19809279
GRCh38: 8:19951768-19951768
7 LPL NM_000237.3(LPL):c.693C>G (p.Asp231Glu) SNV Pathogenic
1528 rs118204067 GRCh37: 8:19811782-19811782
GRCh38: 8:19954271-19954271
8 LPL NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) SNV Pathogenic
1531 rs118204074 GRCh37: 8:19809330-19809330
GRCh38: 8:19951819-19951819
9 LPL NM_000237.3(LPL):c.506G>A (p.Gly169Glu) SNV Pathogenic
1532 rs118204063 GRCh37: 8:19810897-19810897
GRCh38: 8:19953386-19953386
10 LPL NM_000237.3(LPL):c.548A>G (p.Asp183Gly) SNV Pathogenic
1533 rs118204064 GRCh37: 8:19811637-19811637
GRCh38: 8:19954126-19954126
11 LPL NM_000237.3(LPL):c.249+1G>A SNV Pathogenic
1535 rs1563569634 GRCh37: 8:19805852-19805852
GRCh38: 8:19948341-19948341
12 LPL NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) SNV Pathogenic
1536 rs118204065 GRCh37: 8:19809294-19809294
GRCh38: 8:19951783-19951783
13 LPL NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) SNV Pathogenic
1537 rs118204066 GRCh37: 8:19818499-19818499
GRCh38: 8:19960988-19960988
14 LPL NM_000237.3(LPL):c.742del (p.Ala248fs) DEL Pathogenic
1538 rs1563575252 GRCh37: 8:19811831-19811831
GRCh38: 8:19954320-19954320
15 LPL NM_000237.3(LPL):c.88+1G>C SNV Pathogenic
1542 rs766134215 GRCh37: 8:19797040-19797040
GRCh38: 8:19939529-19939529
16 LPL NM_000237.3(LPL):c.596C>G (p.Ser199Cys) SNV Pathogenic
1544 rs118204072 GRCh37: 8:19811685-19811685
GRCh38: 8:19954174-19954174
17 LPL NM_000237.3(LPL):c.306A>C (p.Arg102Ser) SNV Pathogenic
1545 rs118204073 GRCh37: 8:19809336-19809336
GRCh38: 8:19951825-19951825
18 LPL NM_000237.3(LPL):c.665G>A (p.Gly222Glu) SNV Pathogenic
1546 rs118204075 GRCh37: 8:19811754-19811754
GRCh38: 8:19954243-19954243
19 LPL NM_000237.3(LPL):c.621C>G (p.Asp207Glu) SNV Pathogenic
1547 rs118204076 GRCh37: 8:19811710-19811710
GRCh38: 8:19954199-19954199
20 LPL NM_000237.3(LPL):c.1174C>G (p.Leu392Val) SNV Pathogenic
1551 rs118204078 GRCh37: 8:19818446-19818446
GRCh38: 8:19960935-19960935
21 LPL NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) SNV Pathogenic
1553 rs118204079 GRCh37: 8:19819637-19819637
GRCh38: 8:19962126-19962126
22 LPL NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) SNV Pathogenic
Pathogenic
1556 rs118204081 GRCh37: 8:19813563-19813563
GRCh38: 8:19956052-19956052
23 LPL NM_000237.3(LPL):c.798C>G (p.Cys266Trp) SNV Pathogenic
Benign
1557 rs118204082 GRCh37: 8:19813374-19813374
GRCh38: 8:19955863-19955863
24 LPL NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) SNV Pathogenic
979021 rs1409123950 GRCh37: 8:19813505-19813505
GRCh38: 8:19955994-19955994
25 LPL NM_000237.3(LPL):c.765_766del (p.Gly256fs) MICROSAT Pathogenic
995957 GRCh37: 8:19811848-19811849
GRCh38: 8:19954337-19954338
26 LPL NM_000237.3(LPL):c.835C>G (p.Leu279Val) SNV Pathogenic
855588 rs371282890 GRCh37: 8:19813411-19813411
GRCh38: 8:19955900-19955900
27 LPL NM_000237.3(LPL):c.836T>G (p.Leu279Arg) SNV Pathogenic
851236 rs35414700 GRCh37: 8:19813412-19813412
GRCh38: 8:19955901-19955901
28 LPL NM_000237.3(LPL):c.397C>T (p.Gln133Ter) SNV Pathogenic
1524 rs118204058 GRCh37: 8:19809427-19809427
GRCh38: 8:19951916-19951916
29 LPL NM_000237.3(LPL):c.829G>A (p.Asp277Asn) SNV Pathogenic
1539 rs118204068 GRCh37: 8:19813405-19813405
GRCh38: 8:19955894-19955894
30 LPL NM_000237.3(LPL):c.272G>A (p.Trp91Ter) SNV Pathogenic
1541 rs118204070 GRCh37: 8:19809302-19809302
GRCh38: 8:19951791-19951791
31 LPL NM_000237.3(LPL):c.808C>T (p.Arg270Cys) SNV Pathogenic
1548 rs118204077 GRCh37: 8:19813384-19813384
GRCh38: 8:19955873-19955873
32 LPL NM_000237.3(LPL):c.755T>C (p.Ile252Thr) SNV Pathogenic
1554 rs118204080 GRCh37: 8:19811844-19811844
GRCh38: 8:19954333-19954333
33 LPL NM_000237.3(LPL):c.701C>T (p.Pro234Leu) SNV Pathogenic
1527 rs118204060 GRCh37: 8:19811790-19811790
GRCh38: 8:19954279-19954279
34 LPL NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) SNV Pathogenic
1543 rs118204071 GRCh37: 8:19816833-19816833
GRCh38: 8:19959322-19959322
35 LPL NM_000237.3(LPL):c.644G>A (p.Gly215Glu) SNV Pathogenic
Pathogenic
1522 rs118204057 GRCh37: 8:19811733-19811733
GRCh38: 8:19954222-19954222
36 LPL NM_000237.3(LPL):c.662T>C (p.Ile221Thr) SNV Pathogenic
1529 rs118204061 GRCh37: 8:19811751-19811751
GRCh38: 8:19954240-19954240
37 LPL NM_000237.3(LPL):c.1019-2A>T SNV Pathogenic
1693264 GRCh37: 8:19816769-19816769
GRCh38: 8:19959258-19959258
38 LPL NM_000237.3(LPL):c.337T>C (p.Trp113Arg) SNV Pathogenic
1540 rs118204069 GRCh37: 8:19809367-19809367
GRCh38: 8:19951856-19951856
39 LPL NM_000237.3(LPL):c.809G>A (p.Arg270His) SNV Pathogenic
1530 rs118204062 GRCh37: 8:19813385-19813385
GRCh38: 8:19955874-19955874
40 LPL LPL, 1-BP DEL, CODON 172 DEL Pathogenic
1558 GRCh37:
GRCh38:
41 LPL NM_000237.3(LPL):c.242G>A (p.Gly81Asp) SNV Likely Pathogenic
1339047 GRCh37: 8:19805844-19805844
GRCh38: 8:19948333-19948333
42 LPL NM_000237.3(LPL):c.547G>A (p.Asp183Asn) SNV Likely Pathogenic
1066635 GRCh37: 8:19811636-19811636
GRCh38: 8:19954125-19954125
43 LPL NM_000237.3(LPL):c.991A>G (p.Lys331Glu) SNV Likely Pathogenic
1030690 rs2069982771 GRCh37: 8:19813567-19813567
GRCh38: 8:19956056-19956056
44 LPL NM_000237.3(LPL):c.721C>T (p.Pro241Ser) SNV Likely Pathogenic
1236167 GRCh37: 8:19811810-19811810
GRCh38: 8:19954299-19954299
45 LPL NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) SNV Likely Pathogenic
522719 rs1554517725 GRCh37: 8:19813373-19813373
GRCh38: 8:19955862-19955862
46 LPL NM_000237.3(LPL):c.292G>A (p.Ala98Thr) SNV Likely Pathogenic
1203042 GRCh37: 8:19809322-19809322
GRCh38: 8:19951811-19951811
47 LPL NM_000237.3(LPL):c.805G>A (p.Glu269Lys) SNV Likely Pathogenic
1066636 GRCh37: 8:19813381-19813381
GRCh38: 8:19955870-19955870
48 LPL NM_000237.3(LPL):c.347G>A (p.Arg116Gln) SNV Likely Pathogenic
1210341 GRCh37: 8:19809377-19809377
GRCh38: 8:19951866-19951866
49 LPL NM_000237.3(LPL):c.1139+1G>A SNV Likely Pathogenic
973587 rs767260655 GRCh37: 8:19816892-19816892
GRCh38: 8:19959381-19959381
50 LPL NM_000237.3(LPL):c.784C>T (p.Gln262Ter) SNV Likely Pathogenic
523886 rs1297688787 GRCh37: 8:19813360-19813360
GRCh38: 8:19955849-19955849

UniProtKB/Swiss-Prot genetic disease variations for Hyperlipoproteinemia, Type I:

73 (show top 50) (show all 68)
# Symbol AA change Variation ID SNP ID
1 LPL p.Arg102Ser VAR_004211 rs118204073
2 LPL p.Trp113Gly VAR_004212
3 LPL p.Trp113Arg VAR_004213 rs118204069
4 LPL p.His163Arg VAR_004214
5 LPL p.Gly169Glu VAR_004215 rs118204063
6 LPL p.Gly181Ser VAR_004216
7 LPL p.Asp183Gly VAR_004217 rs118204064
8 LPL p.Asp183Asn VAR_004218 rs781614031
9 LPL p.Pro184Arg VAR_004219
10 LPL p.Ala185Thr VAR_004220 rs748349562
11 LPL p.Ser199Cys VAR_004221 rs118204072
12 LPL p.Ala203Thr VAR_004222 rs118204056
13 LPL p.Asp207Glu VAR_004223 rs118204076
14 LPL p.His210Gln VAR_004224
15 LPL p.Gly215Glu VAR_004225 rs118204057
16 LPL p.Ser220Arg VAR_004226 rs757546424
17 LPL p.Ile221Thr VAR_004227 rs118204061
18 LPL p.Gly222Glu VAR_004228 rs118204075
19 LPL p.Asp231Glu VAR_004229 rs118204067
20 LPL p.Ile232Ser VAR_004230 rs770601263
21 LPL p.Pro234Leu VAR_004231 rs118204060
22 LPL p.Cys243Ser VAR_004232
23 LPL p.Arg270His VAR_004233 rs118204062
24 LPL p.Ser271Thr VAR_004234 rs118204059
25 LPL p.Asp277Asn VAR_004235 rs118204068
26 LPL p.Ser278Cys VAR_004236
27 LPL p.Ser286Gly VAR_004237
28 LPL p.Ser286Arg VAR_004238
29 LPL p.Met328Thr VAR_004240 rs1181582051
30 LPL p.Leu330Pro VAR_004241
31 LPL p.Ala361Thr VAR_004242 rs118204071
32 LPL p.Leu392Val VAR_004243 rs118204078
33 LPL p.Glu437Lys VAR_004245
34 LPL p.Glu437Val VAR_004246
35 LPL p.Ala288Thr VAR_011949 rs1800011
36 LPL p.Asn70Ser VAR_057914
37 LPL p.Val96Leu VAR_057915 rs373088068
38 LPL p.Ala98Thr VAR_057916 rs145657341
39 LPL p.Thr128Ala VAR_057917
40 LPL p.Gly132Arg VAR_057918
41 LPL p.Gly181Val VAR_057919
42 LPL p.Asp183His VAR_057920 rs781614031
43 LPL p.Gly186Glu VAR_057921
44 LPL p.Glu190Gly VAR_057922
45 LPL p.Asp201Val VAR_057923
46 LPL p.Val208Ile VAR_057924 rs568397156
47 LPL p.His210Asp VAR_057925
48 LPL p.Gly215Arg VAR_057926
49 LPL p.Lys225Arg VAR_057927
50 LPL p.Val227Ala VAR_057928 rs528243561

Expression for Hyperlipoproteinemia, Type I

Search GEO for disease gene expression data for Hyperlipoproteinemia, Type I.

Pathways for Hyperlipoproteinemia, Type I

Pathways related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 PNLIP LPL GPIHBP1 DGAT1 APOE APOC3
2
Show member pathways
13.23 APOA1 APOB APOC2 APOC3 APOE GPIHBP1
3
Show member pathways
13.17 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
4
Show member pathways
12.64 APOA1 APOB APOC2 APOC3 APOE GPIHBP1
5
Show member pathways
12.6 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
6
Show member pathways
12.54 APOC3 APOA5 APOA1 ANGPTL4
7
Show member pathways
12.46 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
8
Show member pathways
12.34 LPL APOA5 APOA1 ANGPTL4
9
Show member pathways
12.22 PCSK9 APOE APOB APOA5 APOA1
10 11.83 APOE APOA5 APOA1
11
Show member pathways
11.79 APOE APOC2 ANGPTL3
12
Show member pathways
11.74 LPL APOC3 APOA5 APOA1 ANGPTL4
13
Show member pathways
11.65 APOE APOB APOA1
14
Show member pathways
11.58 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
15
Show member pathways
11.4 LPL LIPC DGAT1
16
Show member pathways
11.2 APOA1 APOA5 APOB APOC2 APOC3 APOE
17 11.09 APOC3 APOA5 APOA1
18 10.87 MTTP APOB

GO Terms for Hyperlipoproteinemia, Type I

Cellular components related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.55 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
2 extracellular region GO:0005576 10.51 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
3 endoplasmic reticulum lumen GO:0005788 10.3 APOA1 APOA5 APOB APOE LIPC MTTP
4 collagen-containing extracellular matrix GO:0062023 10.21 APOE APOC3 APOA1 ANGPTL4 ANGPTL3
5 early endosome GO:0005769 10.21 ANGPTL3 APOA1 APOA5 APOB APOC2 APOC3
6 endocytic vesicle lumen GO:0071682 9.97 APOE APOB APOA1
7 spherical high-density lipoprotein particle GO:0034366 9.95 APOC3 APOC2 APOA1
8 low-density lipoprotein particle GO:0034362 9.95 APOE APOC2 APOB APOA5
9 intermediate-density lipoprotein particle GO:0034363 9.92 APOE APOC3 APOC2 APOB
10 high-density lipoprotein particle GO:0034364 9.9 LIPC APOE APOC2 APOB APOA5 APOA1
11 very-low-density lipoprotein particle GO:0034361 9.8 APOA1 APOA5 APOB APOC2 APOC3 APOE
12 chylomicron GO:0042627 9.47 LPL APOE APOC3 APOC2 APOB APOA5

Biological processes related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 10.37 LPL LIPG LIPC GPIHBP1 APOE APOC3
2 cholesterol metabolic process GO:0008203 10.34 ANGPTL3 APOA1 APOB APOE LIPC PCSK9
3 lipid catabolic process GO:0016042 10.29 PNLIP LPL LIPG LIPC APOC3 APOC2
4 cholesterol efflux GO:0033344 10.23 APOE APOC3 APOC2 APOB APOA5 APOA1
5 intermembrane lipid transfer GO:0120009 10.22 MTTP APOE APOB APOA1
6 reverse cholesterol transport GO:0043691 10.21 APOA1 APOC2 APOC3 APOE LIPC LIPG
7 fatty acid biosynthetic process GO:0006633 10.19 LPL LIPG LIPC
8 high-density lipoprotein particle remodeling GO:0034375 10.19 LIPG LIPC APOE APOC3 APOA1
9 phospholipid metabolic process GO:0006644 10.18 ANGPTL3 APOA1 LPL PCSK9
10 low-density lipoprotein particle remodeling GO:0034374 10.18 MTTP LIPC APOE APOB
11 phospholipid efflux GO:0033700 10.18 APOA1 APOA5 APOC2 APOC3 APOE
12 very-low-density lipoprotein particle remodeling GO:0034372 10.18 LPL LIPC APOE APOC2 APOA5 APOA1
13 very-low-density lipoprotein particle assembly GO:0034379 10.17 MTTP DGAT1 APOC3 APOB
14 triglyceride catabolic process GO:0019433 10.17 LPL LIPG LIPC GPIHBP1 APOC3 APOB
15 lipid storage GO:0019915 10.15 DGAT1 APOA1 ANGPTL3
16 positive regulation of lipoprotein lipase activity GO:0051006 10.15 GPIHBP1 APOC2 APOA5 APOA1
17 lipoprotein metabolic process GO:0042157 10.15 APOA1 APOA5 APOB APOC3 APOE MTTP
18 artery morphogenesis GO:0048844 10.14 APOE APOB ANGPTL3
19 lipid transport GO:0006869 10.14 MTTP APOE APOC3 APOC2 APOB APOA5
20 chylomicron remnant clearance GO:0034382 10.13 APOC2 APOC3 APOE LIPC
21 positive regulation of lipid biosynthetic process GO:0046889 10.12 APOE APOA5 APOA1
22 phospholipid homeostasis GO:0055091 10.11 LIPG APOA1 ANGPTL3
23 lipid metabolic process GO:0006629 10.11 PNLIP PCSK9 MTTP LPL LIPG LIPC
24 positive regulation of fatty acid biosynthetic process GO:0045723 10.1 APOC2 APOA5 APOA1
25 high-density lipoprotein particle assembly GO:0034380 10.1 APOE APOA5 APOA1
26 positive regulation of triglyceride catabolic process GO:0010898 10.09 APOA1 APOA5 APOC2
27 regulation of Cdc42 protein signal transduction GO:0032489 10.08 APOE APOC3 APOA1
28 high-density lipoprotein particle clearance GO:0034384 10.08 APOE APOC2 APOA1
29 negative regulation of lipoprotein lipase activity GO:0051005 10.07 APOC3 ANGPTL4 ANGPTL3
30 cholesterol transport GO:0030301 10.06 LIPC APOB APOA1
31 lipoprotein biosynthetic process GO:0042158 10.06 APOA1 APOB APOE
32 positive regulation of lipid storage GO:0010884 10.02 LPL APOB
33 negative regulation of low-density lipoprotein particle clearance GO:0010989 10.01 PCSK9 APOC3
34 positive regulation of CoA-transferase activity GO:1905920 10.01 APOE APOA1
35 positive regulation of lipid catabolic process GO:0050996 10.01 APOA5 ANGPTL3
36 negative regulation of receptor-mediated endocytosis GO:0048261 10.01 APOC3 APOC2
37 positive regulation of cholesterol storage GO:0010886 10 LPL APOB
38 protein import GO:0017038 10 APOE GPIHBP1
39 regulation of intestinal cholesterol absorption GO:0030300 10 APOA1 APOA5
40 lipoprotein catabolic process GO:0042159 10 APOB APOE
41 negative regulation of lipid metabolic process GO:0045833 9.99 APOC2 APOC3
42 positive regulation of cholesterol metabolic process GO:0090205 9.99 APOA1 APOE
43 positive regulation of phospholipid efflux GO:1902995 9.99 APOE APOA1
44 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.99 APOC3 APOC2
45 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.98 APOC3 APOA1
46 positive regulation of low-density lipoprotein particle receptor catabolic process GO:0032805 9.98 APOE PCSK9
47 chylomicron remodeling GO:0034371 9.98 APOC2 LPL
48 steroid metabolic process GO:0008202 9.96 PCSK9 APOE APOB APOA1
49 triglyceride homeostasis GO:0070328 9.96 ANGPTL3 ANGPTL4 APOA1 APOA5 APOC2 APOC3
50 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.95 APOA5 APOC2

Molecular functions related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 10.32 LPL APOE APOA1 ANGPTL4 ANGPTL3
2 phospholipid binding GO:0005543 10.24 APOE APOC3 APOB APOA5 APOA1
3 lipid binding GO:0008289 10.1 APOA1 APOA5 APOC2 APOC3 APOE GPIHBP1
4 cholesterol binding GO:0015485 10.09 APOC3 APOA5 APOA1
5 phospholipase activity GO:0004620 10.06 LPL LIPG LIPC
6 low-density lipoprotein particle receptor binding GO:0050750 10.06 PCSK9 APOE APOB APOA5
7 phospholipase A1 activity GO:0008970 10.05 LIPC LIPG LPL
8 phosphatidylserine 1-acylhydrolase activity GO:0052739 10.04 LPL LIPG LIPC
9 lipoprotein lipase activity GO:0004465 10.03 LPL LIPG LIPC
10 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 10.02 LIPC LIPG LPL
11 cholesterol transfer activity GO:0120020 10.01 MTTP APOE APOB APOA1
12 lipase binding GO:0035473 9.99 APOA5 APOB GPIHBP1
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.97 APOA1 APOA5 APOE
14 triglyceride lipase activity GO:0004806 9.97 PNLIP LPL LIPG LIPC
15 lipid transporter activity GO:0005319 9.95 MTTP APOE APOB APOA1
16 lipase inhibitor activity GO:0055102 9.91 APOC3 APOC2
17 very-low-density lipoprotein particle receptor binding GO:0070326 9.91 APOE PCSK9
18 lipoprotein lipase activator activity GO:0060230 9.91 APOA5 APOC2 GPIHBP1
19 high-density lipoprotein particle receptor binding GO:0070653 9.9 APOC3 APOA1
20 apolipoprotein receptor binding GO:0034190 9.89 PCSK9 APOA1
21 lipase activity GO:0016298 9.86 PNLIP LPL LIPG LIPC
22 carboxylic ester hydrolase activity GO:0052689 9.83 PNLIP LPL LIPG LIPC
23 heparin binding GO:0008201 9.8 LPL LIPG LIPC APOE APOB APOA5
24 apolipoprotein binding GO:0034185 9.76 LIPC LPL MTTP PCSK9
25 lipoprotein particle binding GO:0071813 9.17 LPL GPIHBP1 APOE APOA1

Sources for Hyperlipoproteinemia, Type I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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