HLPP1
MCID: HYP768
MIFTS: 67

Hyperlipoproteinemia, Type I (HLPP1)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperlipoproteinemia, Type I

MalaCards integrated aliases for Hyperlipoproteinemia, Type I:

Name: Hyperlipoproteinemia, Type I 57 36 29 6
Familial Chylomicronemia Syndrome 12 20 58 29 15
Lipoprotein Lipase Deficiency 57 73 72 13 39
Hyperlipemia, Idiopathic, Burger-Grutz Type 57 72
Hyperlipemia, Essential Familial 57 72
Hyperchylomicronemia, Familial 57 72
Hyperlipoproteinemia, Type Ia 57 72
Hyperlipoproteinemia Type I 73 70
Chylomicronemia, Familial 57 72
Lipase D Deficiency 57 72
Lipd Deficiency 57 72
Lpl Deficiency 57 72
High Density Lipoprotein Cholesterol Level Qtl 11 57
Familial Hyperchylomicronemia Syndrome 70
Familial Hyperchylomicronemia 73
Hyperlipoproteinemia Type 1 20
Hyperlipoproteinemia 1 72
Lipoprotein Lipase 6
Hlpp1 72

Characteristics:

Orphanet epidemiological data:

58
familial chylomicronemia syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
multiple alleles and compounds


HPO:

31
hyperlipoproteinemia, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Hyperlipoproteinemia, Type I

GARD : 20 Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood. This condition is characterized by inflammation of the pancreas ( pancreatitis ), abdominal pain, enlargement of the liver and spleen ( hepatosplenomegaly ), and small yellow skin lesions called eruptive xanthomas. Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This condition is inherited in an autosomal recessive pattern. Treatment aims to control the symptoms through a low-fat diet.

MalaCards based summary : Hyperlipoproteinemia, Type I, also known as familial chylomicronemia syndrome, is related to lipase deficiency, combined and apolipoprotein c-ii deficiency. An important gene associated with Hyperlipoproteinemia, Type I is LPL (Lipoprotein Lipase), and among its related pathways/superpathways are Glycerolipid metabolism and PPAR signaling pathway. The drugs Fosamprenavir and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and spleen, and related phenotypes are hypertriglyceridemia and increased circulating chylomicron concentration

Disease Ontology : 12 A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.

KEGG : 36 Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in plasma.

UniProtKB/Swiss-Prot : 72 Hyperlipoproteinemia 1: 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.

Wikipedia : 73 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 I family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type Id Hyperlipoproteinemia, Type Iii

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

(show top 50) (show all 330)
# Related Disease Score Top Affiliating Genes
1 lipase deficiency, combined 32.4 PNLIP LPL LMF1 LIPG LIPC GPIHBP1
2 apolipoprotein c-ii deficiency 32.2 LPL GPIHBP1 APOC4-APOC2 APOC2
3 familial lipoprotein lipase deficiency 31.5 PNLIP LPL LMF1 LIPC GPIHBP1 APOE
4 pancreatitis 31.2 PNLIP LPL LMF1 APOC2 APOA5
5 acute pancreatitis 31.2 PNLIP LPL APOC2
6 familial apolipoprotein c-ii deficiency 31.1 PNLIP MTTP LPL LMF1 GPIHBP1 APOE
7 cerebrovascular disease 30.8 LPL APOE APOB APOA1
8 aortic atherosclerosis 30.8 LPL APOE APOB
9 hypoalphalipoproteinemia 30.6 LIPC APOA2 APOA1
10 coronary stenosis 30.5 LPL APOE APOB APOA1
11 platelet glycoprotein iv deficiency 30.5 LPL APOE APOB
12 xanthomatosis 30.4 LPL APOE APOB
13 apolipoprotein c-iii deficiency 30.4 LPL APOC3
14 hepatic lipase deficiency 30.4 PNLIP LPL LIPC APOE APOA1
15 abdominal obesity-metabolic syndrome 1 30.4 LPL APOB APOA1
16 hypercholesterolemia, familial, 1 30.3 LPL LIPC APOE APOB APOA2 APOA1
17 hyperlipoproteinemia, type v 30.3 LPL APOE APOC3 APOC2 APOB APOA5
18 gallbladder disease 30.3 APOE APOB APOA1
19 familial lcat deficiency 30.2 APOE APOA2 APOA1
20 peripheral artery disease 30.2 APOE APOB APOA1
21 lecithin:cholesterol acyltransferase deficiency 30.1 LPL APOE APOB APOA2 APOA1
22 lipid metabolism disorder 30.1 MTTP LPL LIPG LIPC APOE APOC3
23 hyperalphalipoproteinemia 1 30.1 LPL LIPC APOC3 APOB APOA2 APOA1
24 chronic kidney disease 30.1 LPL LIPC APOE APOB APOA1
25 myocardial infarction 30.1 LPL LIPC APOE APOC3 APOB APOA5
26 homozygous familial hypercholesterolemia 30.1 LIPC APOE APOB APOA2 APOA1
27 hyperlipidemia, familial combined, 3 30.1 LPL LIPC APOE APOC3 APOC2 APOB
28 nephrotic syndrome 30.0 LPL APOE APOB APOA1 ANGPTL4 ANGPTL3
29 hyperlipoproteinemia, type iii 30.0 LPL LIPC APOE APOC2 APOB APOA5
30 lipoprotein quantitative trait locus 30.0 LPL LIPC APOE APOC3 APOB APOA5
31 vascular disease 29.9 LPL LIPC APOE APOC3 APOC2 APOB
32 inherited metabolic disorder 29.9 MTTP LPL LIPA APOE APOC3 APOB
33 coronary heart disease 1 29.8 MTTP LPL LIPC APOE APOC3 APOB
34 non-alcoholic fatty liver disease 29.8 MTTP LPL LIPA APOE APOC3 APOB
35 abetalipoproteinemia 29.8 MTTP LPL APOE APOC2 APOB APOA1
36 tangier disease 29.7 LPL LIPG APOE APOC3 APOB APOA2
37 hypobetalipoproteinemia, familial, 1 29.7 MTTP APOE APOC3 APOC2 APOB APOA5
38 cardiovascular system disease 29.7 MTTP LPL LIPG LIPC APOE APOC3
39 hypertriglyceridemia, familial 29.6 LPL LIPC APOE APOC3 APOC2 APOB
40 atherosclerosis susceptibility 29.6 LPL LIPG LIPC APOE APOC3 APOB
41 type 2 diabetes mellitus 29.6 PNLIP MTTP LPL LIPG LIPC DGAT1
42 familial hypercholesterolemia 29.5 MTTP LPL LIPC LIPA APOE APOC3
43 hypolipoproteinemia 29.5 MTTP LPL LIPG APOE APOC3 APOC2
44 familial hyperlipidemia 29.4 PNLIP MTTP LPL LIPC LIPA APOE
45 diabetes mellitus 29.1 PNLIP MTTP LPL LIPC APOE APOC3
46 body mass index quantitative trait locus 11 28.7 PNLIP MTTP LPL LIPG LIPC LIPA
47 hyperlipoproteinemia, type id 11.1
48 familial chylomicronemia due to inhibition of lipoprotein lipase activity 11.1
49 familial apolipoprotein a5 deficiency 11.1
50 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase 11.1

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 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 obligate (100%) Obligate (100%) HP:0002155
2 increased circulating chylomicron concentration 31 obligate (100%) HP:0012238
3 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
4 episodic abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002574
5 acute pancreatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001735
6 recurrent pancreatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100027
7 lipemia retinalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000660
8 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
9 eruptive xanthomas 58 31 frequent (33%) Frequent (79-30%) HP:0001013
10 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
11 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
12 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
13 diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0000819
14 jaundice 58 31 very rare (1%) Very rare (<4-1%) HP:0000952
15 memory impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002354
16 pulmonary embolism 58 31 very rare (1%) Very rare (<4-1%) HP:0002204
17 dementia 58 31 very rare (1%) Very rare (<4-1%) HP:0000726
18 abnormal emotion/affect behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100851
19 perianal abscess 58 31 very rare (1%) Very rare (<4-1%) HP:0009789
20 hyperlipidemia 58 31 Obligate (100%) HP:0003077
21 splenomegaly 31 HP:0001744
22 vomiting 31 HP:0002013
23 hypercholesterolemia 31 HP:0003124
24 decreased body weight 58 Occasional (29-5%)
25 pancreatitis 31 HP:0001733
26 precocious atherosclerosis 58 Excluded (0%)
27 nausea 31 HP:0002018
28 hyperchylomicronemia 58 Obligate (100%)
29 lactescent serum 31 HP:0031028

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.65 LIPC
2 Decreased LDL uptake GR00340-A-1 8.32 LPL

MGI Mouse Phenotypes related to Hyperlipoproteinemia, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.89 ANGPTL3 ANGPTL4 APOA1 APOA2 APOA5 APOB
2 adipose tissue MP:0005375 9.76 ANGPTL3 ANGPTL4 APOE DGAT1 DGAT2 LIPA
3 liver/biliary system MP:0005370 9.36 ANGPTL3 APOA1 APOB APOE DGAT1 DGAT2

Drugs & Therapeutics for Hyperlipoproteinemia, Type I

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fosamprenavir Approved Phase 3 226700-79-4 131536
2 Gastrointestinal Agents Phase 2, Phase 3
3 Neuroprotective Agents Phase 2, Phase 3
4 Antiemetics Phase 2, Phase 3
5
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
6 Anti-Obesity Agents Phase 2
7 Lipid Regulating Agents Phase 2
8
Heparin Approved, Investigational 9005-49-6 772 9812414
9
Vitamin C Approved, Nutraceutical Early Phase 1 50-81-7 5785 54670067
10
gastric inhibitory polypeptide Investigational 100040-31-1
11 Incretins
12
asparaginase
13 Protective Agents Early Phase 1
14 Micronutrients Early Phase 1
15 Pharmaceutical Solutions Early Phase 1
16 Trace Elements Early Phase 1
17 Nutrients Early Phase 1
18 Antioxidants Early Phase 1
19 Soy Bean Early Phase 1
20 Fat Emulsions, Intravenous Early Phase 1
21 Soybean oil, phospholipid emulsion Early Phase 1
22 Parenteral Nutrition Solutions Early Phase 1
23 Vitamins Early Phase 1
24 Fibrinolytic Agents
25 Anticoagulants
26 calcium heparin
27 insulin
28 Insulin, Globin Zinc
29 Calcium, Dietary
30
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 28)
# 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 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
3 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
4 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
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 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of AKCEA-APOCIII-LRx Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT04568434 Phase 3 AKCEA-APOCIII-LRx;Placebo
7 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
8 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
9 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
10 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
11 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
12 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)
13 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
14 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
15 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Completed NCT02656095 Heparin
16 InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia Completed NCT04223908
17 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
18 Effects of Water-Based Exercise on Lipid Profile and Lipoprotein Lipase of Dyslipidemic Premenopausal Women: A Randomized Controlled Trial Completed NCT02418715
19 Lipoprotein Lipase Expression in Chronic Lymphocytic Leukemia Completed NCT01460238
20 Systematic Study of Post Herapin Lipoprotein Lipase Activity and Lipoprotein Remodelling in Multifactorial Chylomicronemia Completed NCT02933138
21 Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency Recruiting NCT04227678 Heparin
22 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 Recruiting NCT04364451
23 Glybera Registry, Long-term Safety and Efficacy Follow-up in Lipoprotein Lipase Deficient (LPLD) Patients Treated With Alipogene Tiparvovec (GLYBERA®) Active, not recruiting NCT03293810
24 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT03198897
25 Volanesorsen (ISIS 304801) Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
26 Reversing Glucose and Lipid-mediated Vascular Dysfunction (REGAL) Not yet recruiting NCT04832009 Early Phase 1 Dextrose 20 % in 500 ML Injection;Intralipid;Saline;Ascorbic acid
27 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
28 The Independent Effect of Level of Kidney Function and Body Composition On Establishing HDL Cholesterol Levels Terminated NCT02755818 Heparin

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 29 LPL
2 Familial Chylomicronemia Syndrome 29

Anatomical Context for Hyperlipoproteinemia, Type I

MalaCards organs/tissues related to Hyperlipoproteinemia, Type I:

40
Liver, Pancreas, Spleen, Lung, Heart, Kidney, Breast

Publications for Hyperlipoproteinemia, Type I

Articles related to Hyperlipoproteinemia, Type I:

(show top 50) (show all 363)
# Title Authors PMID Year
1
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. 61 6 57
1674945 1991
2
Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. 57 6
16174715 2005
3
Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency. 6 57
1969408 1990
4
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 61 6
15877202 2005
5
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. 61 57
10199753 1999
6
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. 61 57
9738727 1998
7
Hemolysis in primary lipoprotein lipase deficiency. 57 61
7752915 1995
8
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 61 6
8135797 1994
9
A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. 61 6
1530621 1992
10
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec. 6 61
1576758 1992
11
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. 6 61
1752947 1991
12
Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. 61 6
1907278 1991
13
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. 6 61
2038366 1991
14
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. 6 61
1872917 1991
15
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene. 6 61
2121025 1990
16
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. 61 6
1975597 1990
17
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. 61 6
2394828 1990
18
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. 61 6
2349938 1990
19
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. 61 6
2294743 1990
20
Defective enzyme protein in lipoprotein lipase deficiency. 57 61
2511019 1989
21
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. 61 6
2536938 1989
22
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. 57 61
3630977 1987
23
Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency. 6 61
6645961 1983
24
Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. 57 61
6638056 1983
25
Heterogeneity of primary lipoprotein lipase deficiency. 61 57
7382827 1980
26
Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. 6 61
213719 1978
27
Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings. 57 61
192555 1977
28
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
29
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. 6
27573733 2016
30
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. 6
27055971 2016
31
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia. 6
25966443 2015
32
Targeting APOC3 in the familial chylomicronemia syndrome. 57
25470695 2014
33
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain. 6
24847059 2014
34
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 6
24614124 2014
35
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. 6
22239554 2012
36
Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations. 6
22095987 2012
37
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 6
21816778 2011
38
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. 6
20026666 2010
39
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 6
20124439 2010
40
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 6
19304573 2009
41
Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). 6
17717288 2007
42
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations. 6
16972177 2006
43
Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia. 6
15840743 2005
44
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. 6
12783430 2003
45
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. 6
11334614 2001
46
Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis. 6
11134145 2000
47
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)). 6
10735636 2000
48
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. 6
9714430 1998
49
A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase. 6
8858123 1996
50
The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. 6
8567671 1996

Variations for Hyperlipoproteinemia, Type I

ClinVar genetic disease variations for Hyperlipoproteinemia, Type I:

6 (show top 50) (show all 215)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LPL LPL, INS Insertion Pathogenic 1520 GRCh37:
GRCh38:
2 LPL nsv513798 Duplication Pathogenic 1521 GRCh37:
GRCh38:
3 LPL LPL, 6-KB DEL Deletion Pathogenic 1523 GRCh37:
GRCh38:
4 LPL LPL, 1-BP DEL, CODON 172 Deletion Pathogenic 1558 GRCh37:
GRCh38:
5 GPIHBP1 NM_178172.6(GPIHBP1):c.194G>C (p.Cys65Ser) SNV Pathogenic 144014 rs587777638 GRCh37: 8:144296900-144296900
GRCh38: 8:143215025-143215025
6 GPIHBP1 NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro) SNV Pathogenic 144018 rs587777641 GRCh37: 8:144297169-144297169
GRCh38: 8:143215294-143215294
7 GPIHBP1 NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs) Deletion Pathogenic 144019 rs587777642 GRCh37: 8:144297251-144297267
GRCh38: 8:143215376-143215392
8 GPIHBP1 NM_178172.6(GPIHBP1):c.194G>A (p.Cys65Tyr) SNV Pathogenic 144020 rs587777638 GRCh37: 8:144296900-144296900
GRCh38: 8:143215025-143215025
9 GPIHBP1 GPIHBP1, DEL Deletion Pathogenic 144022 GRCh37:
GRCh38:
10 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter) SNV Pathogenic 2574 rs120074111 GRCh37: 19:45452079-45452079
GRCh38: 19:44948822-44948822
11 APOC2 APOC2, 1-BP INS Insertion Pathogenic 2575 GRCh37:
GRCh38:
12 APOC2 APOC2, 1-BP DEL Deletion Pathogenic 2576 GRCh37:
GRCh38:
13 APOC2 APOC2, 1-BP DEL, 2943G Deletion Pathogenic 2578 GRCh37:
GRCh38:
14 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.1A>G (p.Met1Val) SNV Pathogenic 2579 rs120074112 GRCh37: 19:45451736-45451736
GRCh38: 19:44948479-44948479
15 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter) SNV Pathogenic 2580 rs120074111 GRCh37: 19:45452079-45452079
GRCh38: 19:44948822-44948822
16 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.142T>C (p.Trp48Arg) SNV Pathogenic 2583 rs120074115 GRCh37: 19:45452044-45452044
GRCh38: 19:44948787-44948787
17 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter) SNV Pathogenic 2584 rs120074116 GRCh37: 19:45452455-45452455
GRCh38: 19:44949198-44949198
18 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter) SNV Pathogenic 634436 rs754423238 GRCh37: 19:45452091-45452091
GRCh38: 19:44948834-44948834
19 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.55+1G>C SNV Pathogenic 2577 rs111628497 GRCh37: 19:45451791-45451791
GRCh38: 19:44948534-44948534
20 LPL NM_000237.3(LPL):c.607G>A (p.Ala203Thr) SNV Pathogenic 1519 rs118204056 GRCh37: 8:19811696-19811696
GRCh38: 8:19954185-19954185
21 LPL NM_000237.3(LPL):c.397C>T (p.Gln133Ter) SNV Pathogenic 1524 rs118204058 GRCh37: 8:19809427-19809427
GRCh38: 8:19951916-19951916
22 LPL NM_000237.3(LPL):c.811T>A (p.Ser271Thr) SNV Pathogenic 1525 rs118204059 GRCh37: 8:19813387-19813387
GRCh38: 8:19955876-19955876
23 LPL NM_000237.3(LPL):c.250-1G>A SNV Pathogenic 1526 rs1563572716 GRCh37: 8:19809279-19809279
GRCh38: 8:19951768-19951768
24 LPL NM_000237.3(LPL):c.693C>G (p.Asp231Glu) SNV Pathogenic 1528 rs118204067 GRCh37: 8:19811782-19811782
GRCh38: 8:19954271-19954271
25 LPL NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) SNV Pathogenic 1531 rs118204074 GRCh37: 8:19809330-19809330
GRCh38: 8:19951819-19951819
26 LPL NM_000237.3(LPL):c.506G>A (p.Gly169Glu) SNV Pathogenic 1532 rs118204063 GRCh37: 8:19810897-19810897
GRCh38: 8:19953386-19953386
27 LPL NM_000237.3(LPL):c.548A>G (p.Asp183Gly) SNV Pathogenic 1533 rs118204064 GRCh37: 8:19811637-19811637
GRCh38: 8:19954126-19954126
28 LPL NM_000237.3(LPL):c.249+1G>A SNV Pathogenic 1535 rs1563569634 GRCh37: 8:19805852-19805852
GRCh38: 8:19948341-19948341
29 LPL NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) SNV Pathogenic 1536 rs118204065 GRCh37: 8:19809294-19809294
GRCh38: 8:19951783-19951783
30 LPL NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) SNV Pathogenic 1537 rs118204066 GRCh37: 8:19818499-19818499
GRCh38: 8:19960988-19960988
31 LPL NM_000237.3(LPL):c.742del (p.Ala248fs) Deletion Pathogenic 1538 rs1563575252 GRCh37: 8:19811831-19811831
GRCh38: 8:19954320-19954320
32 LPL NM_000237.3(LPL):c.829G>A (p.Asp277Asn) SNV Pathogenic 1539 rs118204068 GRCh37: 8:19813405-19813405
GRCh38: 8:19955894-19955894
33 LPL NM_000237.3(LPL):c.272G>A (p.Trp91Ter) SNV Pathogenic 1541 rs118204070 GRCh37: 8:19809302-19809302
GRCh38: 8:19951791-19951791
34 LPL NM_000237.3(LPL):c.88+1G>C SNV Pathogenic 1542 rs766134215 GRCh37: 8:19797040-19797040
GRCh38: 8:19939529-19939529
35 LPL NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) SNV Pathogenic 1543 rs118204071 GRCh37: 8:19816833-19816833
GRCh38: 8:19959322-19959322
36 LPL NM_000237.3(LPL):c.596C>G (p.Ser199Cys) SNV Pathogenic 1544 rs118204072 GRCh37: 8:19811685-19811685
GRCh38: 8:19954174-19954174
37 LPL NM_000237.3(LPL):c.306A>C (p.Arg102Ser) SNV Pathogenic 1545 rs118204073 GRCh37: 8:19809336-19809336
GRCh38: 8:19951825-19951825
38 LPL NM_000237.3(LPL):c.665G>A (p.Gly222Glu) SNV Pathogenic 1546 rs118204075 GRCh37: 8:19811754-19811754
GRCh38: 8:19954243-19954243
39 LPL NM_000237.3(LPL):c.621C>G (p.Asp207Glu) SNV Pathogenic 1547 rs118204076 GRCh37: 8:19811710-19811710
GRCh38: 8:19954199-19954199
40 LPL NM_000237.3(LPL):c.808C>T (p.Arg270Cys) SNV Pathogenic 1548 rs118204077 GRCh37: 8:19813384-19813384
GRCh38: 8:19955873-19955873
41 LPL NM_000237.3(LPL):c.1174C>G (p.Leu392Val) SNV Pathogenic 1551 rs118204078 GRCh37: 8:19818446-19818446
GRCh38: 8:19960935-19960935
42 LPL NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) SNV Pathogenic 1553 rs118204079 GRCh37: 8:19819637-19819637
GRCh38: 8:19962126-19962126
43 LPL NM_000237.3(LPL):c.755T>C (p.Ile252Thr) SNV Pathogenic 1554 rs118204080 GRCh37: 8:19811844-19811844
GRCh38: 8:19954333-19954333
44 LPL NM_000237.3(LPL):c.798C>G (p.Cys266Trp) SNV Pathogenic 1557 rs118204082 GRCh37: 8:19813374-19813374
GRCh38: 8:19955863-19955863
45 LPL NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) SNV Pathogenic 979021 rs1409123950 GRCh37: 8:19813505-19813505
GRCh38: 8:19955994-19955994
46 LPL NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) SNV Pathogenic 1556 rs118204081 GRCh37: 8:19813563-19813563
GRCh38: 8:19956052-19956052
47 LPL NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) SNV Pathogenic 1556 rs118204081 GRCh37: 8:19813563-19813563
GRCh38: 8:19956052-19956052
48 LPL NM_000237.3(LPL):c.644G>A (p.Gly215Glu) SNV Pathogenic 1522 rs118204057 GRCh37: 8:19811733-19811733
GRCh38: 8:19954222-19954222
49 LPL NM_000237.3(LPL):c.701C>T (p.Pro234Leu) SNV Pathogenic 1527 rs118204060 GRCh37: 8:19811790-19811790
GRCh38: 8:19954279-19954279
50 LPL NM_000237.3(LPL):c.662T>C (p.Ile221Thr) SNV Pathogenic 1529 rs118204061 GRCh37: 8:19811751-19811751
GRCh38: 8:19954240-19954240

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

72 (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 rs118158205
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 KEGG:

36
# Name Kegg Source Accession
1 Glycerolipid metabolism hsa00561
2 PPAR signaling pathway hsa03320

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 PNLIP MTTP LPL LMF1 LIPG LIPC
2
Show member pathways
12.81 LPL DGAT2 DGAT1 APOA5 APOA2 APOA1
3
Show member pathways
12.66 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
4
Show member pathways
12.14 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
5
Show member pathways
12.09 PNLIP MTTP LPL LMF1 LIPG LIPC
6
Show member pathways
11.9 MTTP LPL LIPG LIPC LIPA DGAT1
7 11.84 APOE APOA5 APOA1
8 11.79 LPL APOC3 APOA5 APOA2 APOA1 ANGPTL4
9
Show member pathways
11.73 APOE APOB APOA1
10
Show member pathways
11.66 LPL LIPC DGAT2 DGAT1
11 11.63 PNLIP LPL LIPG LIPC DGAT2 DGAT1
12
Show member pathways
11.46 PNLIP MTTP DGAT2 DGAT1 APOB APOA1
13 11.17 APOC3 APOA5 APOA2 APOA1
14 11.08 PNLIP APOB APOA1
15 10.83 APOA2 APOA1
16 10.69 PNLIP LIPG LIPC

GO Terms for Hyperlipoproteinemia, Type I

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.28 PNLIP LPL LIPG LIPC GPIHBP1 APOE
2 extracellular space GO:0005615 10.26 PNLIP LPL LIPG LIPC APOE APOC3
3 early endosome GO:0005769 10.02 LIPG APOE APOC3 APOC2 APOB APOA5
4 endoplasmic reticulum lumen GO:0005788 10 MTTP LIPC APOE APOB APOA5 APOA2
5 collagen-containing extracellular matrix GO:0062023 9.93 APOE APOC3 APOA1 ANGPTL4 ANGPTL3
6 blood microparticle GO:0072562 9.83 APOE APOA2 APOA1 ANGPTL4
7 high-density lipoprotein particle GO:0034364 9.76 LIPC APOE APOC4-APOC2 APOC2 APOB APOA5
8 spherical high-density lipoprotein particle GO:0034366 9.73 APOC3 APOC2 APOA2 APOA1
9 low-density lipoprotein particle GO:0034362 9.73 APOE APOC4-APOC2 APOC2 APOB APOA5 APOA1
10 intermediate-density lipoprotein particle GO:0034363 9.72 APOE APOC3 APOC2 APOB APOA1
11 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
12 chylomicron GO:0042627 9.61 LPL APOE APOC4-APOC2 APOC3 APOC2 APOB
13 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
14 very-low-density lipoprotein particle GO:0034361 9.28 LPL APOE APOC4-APOC2 APOC3 APOC2 APOB

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

(show top 50) (show all 80)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 10.19 MTTP APOE APOC4-APOC2 APOC3 APOC2 APOB
2 lipid catabolic process GO:0016042 10.16 PNLIP LPL LIPG LIPC LIPA APOC3
3 post-translational protein modification GO:0043687 10.12 APOE APOB APOA5 APOA2 APOA1
4 cellular protein metabolic process GO:0044267 10.09 APOE APOB APOA5 APOA2 APOA1
5 cholesterol metabolic process GO:0008203 10.09 LIPC APOE APOB APOA2 APOA1 ANGPTL3
6 triglyceride catabolic process GO:0019433 10.04 LPL LIPG LIPC APOC3 APOB APOA5
7 reverse cholesterol transport GO:0043691 10.04 LIPG LIPC APOE APOC3 APOC2 APOA2
8 intermembrane lipid transfer GO:0120009 10.02 MTTP APOE APOB APOA2 APOA1
9 lipoprotein metabolic process GO:0042157 10.02 MTTP APOE APOC3 APOB APOA5 APOA2
10 phospholipid efflux GO:0033700 10 APOE APOC3 APOC2 APOA5 APOA2 APOA1
11 chylomicron assembly GO:0034378 10 MTTP APOE APOC3 APOC2 APOB APOA2
12 regulation of lipid metabolic process GO:0019216 9.99 APOA5 APOA2 APOA1 ANGPTL4
13 very-low-density lipoprotein particle remodeling GO:0034372 9.99 LPL LIPC APOE APOC2 APOA5 APOA1
14 low-density lipoprotein particle remodeling GO:0034374 9.98 MTTP LIPC APOE APOB APOA2
15 high-density lipoprotein particle remodeling GO:0034375 9.98 LIPG LIPC APOE APOC3 APOC2 APOA2
16 regulation of lipoprotein lipase activity GO:0051004 9.97 LPL LMF1 LIPC GPIHBP1 ANGPTL3
17 chylomicron remodeling GO:0034371 9.97 LPL GPIHBP1 APOE APOC3 APOC2 APOB
18 chylomicron remnant clearance GO:0034382 9.95 LIPC APOE APOC3 APOC2 APOB
19 cholesterol efflux GO:0033344 9.95 APOE APOC3 APOC2 APOB APOA5 APOA2
20 lipid storage GO:0019915 9.94 DGAT2 DGAT1 APOA1 ANGPTL3
21 cholesterol transport GO:0030301 9.94 LIPC APOB APOA2 APOA1
22 steroid metabolic process GO:0008202 9.93 APOE APOB APOA1
23 high-density lipoprotein particle assembly GO:0034380 9.93 APOE APOA5 APOA2 APOA1
24 fatty acid biosynthetic process GO:0006633 9.92 LPL LIPG LIPC
25 phospholipid metabolic process GO:0006644 9.92 LPL APOA1 ANGPTL3
26 very-low-density lipoprotein particle assembly GO:0034379 9.92 MTTP DGAT1 APOC3 APOB
27 triglyceride metabolic process GO:0006641 9.92 MTTP LPL LMF1 DGAT1 APOE APOC3
28 positive regulation of lipoprotein lipase activity GO:0051006 9.91 GPIHBP1 APOC2 APOA5 APOA1
29 retinoid metabolic process GO:0001523 9.91 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
30 high-density lipoprotein particle clearance GO:0034384 9.9 APOE APOC2 APOA2 APOA1
31 positive regulation of cholesterol esterification GO:0010873 9.89 APOE APOA5 APOA2 APOA1
32 artery morphogenesis GO:0048844 9.87 APOE APOB ANGPTL3
33 low-density lipoprotein particle clearance GO:0034383 9.87 LIPA DGAT2 APOB
34 phospholipid catabolic process GO:0009395 9.86 LIPG APOA2 ANGPTL3
35 triglyceride biosynthetic process GO:0019432 9.86 LPL DGAT2 DGAT1
36 positive regulation of lipid biosynthetic process GO:0046889 9.85 APOE APOA5 APOA1
37 fatty acid homeostasis GO:0055089 9.85 DGAT2 DGAT1 APOE
38 phospholipid homeostasis GO:0055091 9.85 LIPG APOA1 ANGPTL3
39 positive regulation of fatty acid biosynthetic process GO:0045723 9.85 APOC2 APOA5 APOA1
40 triglyceride homeostasis GO:0070328 9.85 LPL LIPC GPIHBP1 APOE APOC3 APOC2
41 positive regulation of triglyceride catabolic process GO:0010898 9.84 APOC2 APOA5 APOA1
42 positive regulation of lipid catabolic process GO:0050996 9.84 APOA5 APOA2 ANGPTL3
43 negative regulation of lipoprotein lipase activity GO:0051005 9.83 APOC3 ANGPTL4 ANGPTL3
44 regulation of Cdc42 protein signal transduction GO:0032489 9.83 APOE APOC3 APOA1
45 lipoprotein biosynthetic process GO:0042158 9.83 APOE APOB APOA1
46 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.82 APOC3 APOA2 APOA1
47 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.81 APOC2 APOA5 APOA2
48 cholesterol homeostasis GO:0042632 9.8 MTTP LPL LIPG LIPC GPIHBP1 DGAT2
49 positive regulation of cholesterol efflux GO:0010875 9.76 APOE APOA1
50 phosphatidylcholine metabolic process GO:0046470 9.75 APOA5 APOA1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 10.07 LPL APOE APOA2 APOA1 ANGPTL4 ANGPTL3
2 lipid binding GO:0008289 10.03 MTTP GPIHBP1 APOE APOC3 APOC2 APOA5
3 phospholipid binding GO:0005543 9.93 APOE APOC3 APOB APOA5 APOA2 APOA1
4 heparin binding GO:0008201 9.87 LPL LIPG LIPC APOE APOB APOA5
5 cholesterol binding GO:0015485 9.85 APOC3 APOA5 APOA2 APOA1
6 carboxylic ester hydrolase activity GO:0052689 9.84 PNLIP LPL LIPG LIPC
7 enzyme activator activity GO:0008047 9.81 APOC4-APOC2 APOC2 APOA5
8 triglyceride lipase activity GO:0004806 9.81 PNLIP LPL LIPG LIPC
9 phosphatidylcholine binding GO:0031210 9.79 APOA5 APOA2 APOA1
10 phospholipase activity GO:0004620 9.78 LPL LIPG LIPC
11 low-density lipoprotein particle receptor binding GO:0050750 9.77 APOE APOB APOA5
12 lipid transporter activity GO:0005319 9.77 MTTP APOE APOB APOA2 APOA1
13 apolipoprotein binding GO:0034185 9.76 MTTP LPL LIPC
14 phospholipase A1 activity GO:0008970 9.75 LPL LIPG LIPC
15 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.74 LPL LIPG LIPC
16 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.73 LPL LIPG LIPC
17 lipoprotein particle binding GO:0071813 9.71 LPL GPIHBP1 APOE APOA1
18 lipase binding GO:0035473 9.7 GPIHBP1 APOB APOA5
19 lipoprotein lipase activity GO:0004465 9.67 LPL LIPG LIPC
20 high-density lipoprotein particle binding GO:0008035 9.65 APOA2 APOA1
21 heparan sulfate proteoglycan binding GO:0043395 9.65 LPL APOE
22 high-density lipoprotein particle receptor binding GO:0070653 9.65 APOC3 APOA2 APOA1
23 2-acylglycerol O-acyltransferase activity GO:0003846 9.64 DGAT2 DGAT1
24 diacylglycerol O-acyltransferase activity GO:0004144 9.63 DGAT2 DGAT1
25 lipoprotein lipase activator activity GO:0060230 9.63 APOC2 APOA5
26 retinol O-fatty-acyltransferase activity GO:0050252 9.62 DGAT2 DGAT1
27 apolipoprotein receptor binding GO:0034190 9.62 APOA2 APOA1
28 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.56 APOE APOA5 APOA2 APOA1
29 lipase inhibitor activity GO:0055102 9.46 APOC3 APOC2 APOA2 APOA1
30 intermembrane cholesterol transfer activity GO:0120020 9.35 MTTP APOE APOB APOA2 APOA1
31 lipase activity GO:0016298 9.02 PNLIP LPL LIPG LIPC LIPA

Sources for Hyperlipoproteinemia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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