LPL DEFICIENCY
MCID: HYP768
MIFTS: 47

Hyperlipoproteinemia, Type I (LPL DEFICIENCY)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlipoproteinemia, Type I

MalaCards integrated aliases for Hyperlipoproteinemia, Type I:

Name: Hyperlipoproteinemia, Type I 58 38 30 6
Lipoprotein Lipase Deficiency 58 77 76 13 41
Lpl Deficiency 58 60 76
Hyperlipoproteinemia Type I 77 74
Lipoprotein Lipase 13 6
Hyperlipemia, Idiopathic, Burger-Grutz Type 58
Familial Lipoprotein Lipase Deficiency 60
Familial Hyperchylomicronemia Syndrome 74
Hyperlipemia, Essential Familial 58
Hyperchylomicronemia, Familial 58
Hyperlipoproteinemia, Type Ia 58
Familial Hyperchylomicronemia 77
Hyperlipoproteinemia Type Ia 76
Hyperlipoproteinemia Type 1a 76
Chylomicronemia, Familial 58
Familial Chylomicronemia 76
Lipase D Deficiency 58
Lipd Deficiency 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
multiple alleles and compounds


HPO:

33
hyperlipoproteinemia, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 238600
KEGG 38 H00154
ICD10 via Orphanet 35 E78.3
UMLS via Orphanet 75 C0023817
Orphanet 60 ORPHA309015

Summaries for Hyperlipoproteinemia, Type I

UniProtKB/Swiss-Prot : 76 Lipoprotein lipase deficiency: Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.

MalaCards based summary : Hyperlipoproteinemia, Type I, also known as lipoprotein lipase deficiency, is related to chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase and familial lipoprotein lipase 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 Mycophenolic acid and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and pancreas, and related phenotypes are splenomegaly and vomiting

Wikipedia : 77 Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for... more...

Description 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 166)
# Related Disease Score Top Affiliating Genes
1 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase 12.2
2 familial lipoprotein lipase deficiency 11.6
3 lipase deficiency, combined 11.5
4 hyperlipoproteinemia, type v 11.2
5 lung cancer 11.0
6 arteries, anomalies of 10.7
7 coronary artery anomaly 10.7
8 diabetes mellitus, noninsulin-dependent 10.5
9 leukemia 10.5
10 hypertriglyceridemia, familial 10.5
11 pancreatitis 10.5
12 hyperlipidemia, familial combined 10.5
13 coronary heart disease 1 10.5
14 lymphocytic leukemia 10.5
15 leukemia, chronic lymphocytic 2 10.5
16 leukemia, chronic lymphocytic 10.5
17 leukemia, b-cell, chronic 10.5
18 myocardial infarction 10.4
19 colorectal adenoma 10.4
20 alzheimer disease 10.3
21 hypercholesterolemia, familial 10.3
22 blood group--wright antigen 10.2
23 hypertension, essential 10.2
24 small cell cancer of the lung 10.2
25 stroke, ischemic 10.2
26 huntington disease-like 3 10.2
27 huntington disease-like 2 10.2
28 gestational diabetes 10.2
29 ischemia 10.2
30 fatty liver disease 10.2
31 hyperlipoproteinemia, type id 10.1
32 body mass index quantitative trait locus 1 10.1
33 melanoma 10.1
34 hyperinsulinism 10.1
35 systemic lupus erythematosus 10.0
36 papillomatosis, confluent and reticulated 10.0
37 rheumatoid arthritis 10.0
38 apolipoprotein c-ii deficiency 10.0
39 microvascular complications of diabetes 3 10.0
40 microvascular complications of diabetes 4 10.0
41 microvascular complications of diabetes 6 10.0
42 microvascular complications of diabetes 7 10.0
43 fatty liver disease, nonalcoholic 1 10.0
44 acute myocardial infarction 10.0
45 aortic atherosclerosis 10.0
46 arthritis 10.0
47 glycogen storage disease 10.0
48 hepatitis 10.0
49 liver disease 10.0
50 nonalcoholic fatty liver disease 10.0

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


Hypertension, Essential Intermediate Coronary Syndrome
Ischemic Heart Disease

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 vomiting 33 HP:0002013
3 jaundice 33 HP:0000952
4 pancreatitis 33 HP:0001733
5 hyperlipidemia 33 HP:0003077
6 hypercholesterolemia 33 HP:0003124
7 episodic abdominal pain 33 HP:0002574
8 nausea 33 HP:0002018
9 hepatosplenomegaly 33 HP:0001433
10 eruptive xanthomas 33 HP:0001013
11 lipemia retinalis 33 HP:0000660
12 increased circulating chylomicron concentration 33 HP:0012238
13 lactescent serum 33 HP:0031028

Symptoms via clinical synopsis from OMIM:

58
G I:
nausea and vomiting
splenomegaly
pancreatitis
episodic abdominal pain
hepatosplenomegaly
more
Lab:
hyperlipidemia
hypercholesterolemia
hyperlipemia
hyperchylomicronemia
fat-induced hyperlipemia
more
Cardiac:
no precocious atherosclerosis

Skin:
jaundice
eruptive xanthomas

Eyes:
lipemia retinalis

Clinical features from OMIM:

238600

Drugs & Therapeutics for Hyperlipoproteinemia, Type I

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 2, Phase 3,Phase 3 24280-93-1 446541
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 3 22916-47-8 4189
3
Fosamprenavir Approved Phase 3,Phase 1,Phase 2 226700-79-4 131536
4
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
5
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
8
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
9 Dermatologic Agents Phase 2, Phase 3,Phase 3
10 Antitubercular Agents Phase 2, Phase 3,Phase 3
11 Anti-Infective Agents Phase 2, Phase 3,Phase 3
12 Cyclosporins Phase 2, Phase 3,Phase 3
13 Antifungal Agents Phase 2, Phase 3,Phase 3
14 Immunologic Factors Phase 2, Phase 3,Phase 3
15 Immunosuppressive Agents Phase 2, Phase 3,Phase 3
16 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3
17 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3
18 Calcineurin Inhibitors Phase 2, Phase 3,Phase 3
19 Antirheumatic Agents Phase 2, Phase 3,Phase 3
20 Antineoplastic Agents, Hormonal Phase 2, Phase 3
21 Neuroprotective Agents Phase 2, Phase 3
22 Hormones Phase 2, Phase 3
23 Hormone Antagonists Phase 2, Phase 3
24 Antiemetics Phase 2, Phase 3
25 Gastrointestinal Agents Phase 2, Phase 3
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
27 glucocorticoids Phase 2, Phase 3
28 Protective Agents Phase 2, Phase 3
29 Methylprednisolone Acetate Phase 2, Phase 3
30 Anti-Inflammatory Agents Phase 2, Phase 3
31 Prednisolone acetate Phase 2, Phase 3
32 Autonomic Agents Phase 2, Phase 3
33 Peripheral Nervous System Agents Phase 2, Phase 3
34
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
35
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
36 Lipid Regulating Agents Phase 2
37 Anti-Obesity Agents Phase 2
38 Liver Extracts Phase 2
39 Calcium, Dietary Phase 2
40
Heparin Approved, Investigational 9005-49-6 46507594 772
41 Anticoagulants
42 Fibrinolytic Agents
43 calcium heparin

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X] Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
2 The APPROACH Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Completed NCT02211209 Phase 3 volanesorsen;Placebo
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 Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
5 The Approach Open Label Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Active, not recruiting NCT02658175 Phase 3 Volanesorsen
6 Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3 LCQ908
7 Phase 2 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
8 Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2 CAT-2003;Placebo
9 Safety, Tolerability,Pharmacokinetics(PK)and Pharmacodynamics(PD)Assessment of LCQ908 in Patients With Severe Hypertriglyceridemia Completed NCT01146522 Phase 1, Phase 2 LCQ908;Placebo
10 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
11 Gemcabene for the Treatment of Pediatric NAFLD Active, not recruiting NCT03436420 Phase 2 Gemcabene
12 Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
13 Study of ARO-APOC3 in Healthy Volunteers, Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT03783377 Phase 1 ARO-APOC3;sterile normal saline (0.9% NaCl)
14 Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies Unknown status NCT01448577
15 Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes Completed NCT03912181
16 Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH) Recruiting NCT03198897
17 Effect of Low-Fat Compared to Low-Carbohydrate Diet in Subjects With Multifactorial Chylomicronemia Recruiting NCT03898609 Not Applicable
18 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Active, not recruiting NCT02656095 Heparin
19 Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients Active, not recruiting NCT03293810
20 Volanesorsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
21 Duration of Effect of Alipogene Tiparvovec Treatment, Which Was Administered in Other Studies 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 30 LPL

Anatomical Context for Hyperlipoproteinemia, Type I

MalaCards organs/tissues related to Hyperlipoproteinemia, Type I:

42
Liver, Skin, Pancreas, Heart, Bone, Lung, Prostate

Publications for Hyperlipoproteinemia, Type I

Articles related to Hyperlipoproteinemia, Type I:

(show top 50) (show all 193)
# Title Authors Year
1
Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes. ( 30948399 )
2019
2
Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia. ( 30210108 )
2019
3
Striated muscle gene therapy for the treatment of lipoprotein lipase deficiency. ( 29304082 )
2018
4
Lipoprotein Lipase Deficiency Impairs Bone Marrow Myelopoiesis and Reduces Circulating Monocyte Levels. ( 29371243 )
2018
5
Gene Therapy in Lipoprotein Lipase Deficiency: Case Report on the First Patient Treated with Alipogene Tiparvovec Under Daily Practice Conditions. ( 29641318 )
2018
6
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. ( 28284702 )
2017
7
Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy. ( 28438574 )
2017
8
Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency. ( 28445021 )
2017
9
Eruptive Xanthomas in Lipoprotein Lipase Deficiency. ( 28529016 )
2017
10
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis. ( 28695157 )
2017
11
The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study. ( 28927429 )
2017
12
Cell therapy could be a potential way to improve lipoprotein lipase deficiency. ( 28969646 )
2017
13
Lipoprotein lipase deficiency presenting with neonatal perianal abscesses. ( 26825936 )
2016
14
Lipoprotein Lipase Deficiency (R243H) in a Type 2 Diabetes Patient with Multiple Arterial Aneurysms. ( 27150867 )
2016
15
Lipaemia in lipoprotein lipase deficiency. ( 27329913 )
2016
16
Lipaemia in lipoprotein lipase deficiency. ( 27329915 )
2016
17
Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis. ( 27412455 )
2016
18
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. ( 25559420 )
2015
19
Lipoprotein lipase deficiency leads to α-synuclein aggregation and ubiquitin C-terminal hydrolase L1 reduction. ( 25595992 )
2015
20
Type I hyperlipidaemia caused by lipoprotein lipase deficiency in a nurseling: the role of the clinical laboratory in processing biological samples and contributing to the diagnosis and therapeutic follow-up of patients. ( 26489817 )
2015
21
Issues Affecting Quality of Life and Disease Burden in Lipoprotein Lipase Deficiency (Lpld) - First Step Towards a Pro Measure in Lpld. ( 26533960 )
2015
22
Cost-Effectiveness Analysis of Glybera for The Treatment of Lipoprotein Lipase Deficiency. ( 26534236 )
2015
23
A 19 year follow-up of a woman with lipoprotein lipase deficiency treated with biliopancreatic diversion. ( 26734140 )
2015
24
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. ( 24680758 )
2014
25
Immune responses to intramuscular administration of alipogene tiparvovec (AAV1-LPL(S447X)) in a phase II clinical trial of lipoprotein lipase deficiency gene therapy. ( 24299335 )
2014
26
Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency. ( 24795752 )
2014
27
Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene. ( 25863041 )
2014
28
Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion. ( 24142281 )
2014
29
Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency. ( 24291057 )
2014
30
Gestational hyperlipidemia and acute pancreatitis with underlying partial lipoprotein lipase deficiency and apolipoprotein E3/E2 genotype. ( 24009459 )
2013
31
Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene. ( 23761384 )
2013
32
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. ( 22717743 )
2013
33
Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency. ( 23126631 )
2013
34
Lipoprotein abnormalities in compound heterozygous lipoprotein lipase deficiency after treatment with a low-fat diet and orlistat. ( 23415432 )
2013
35
Alipogene tiparvovec for the treatment of lipoprotein lipase deficiency. ( 23527320 )
2013
36
Adipose-specific lipoprotein lipase deficiency more profoundly affects brown than white fat biology. ( 23542081 )
2013
37
Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression. ( 22009636 )
2012
38
Gene therapy for lipoprotein lipase deficiency. ( 22691709 )
2012
39
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. ( 22962670 )
2012
40
11-Year follow-up in biliopancreatic diversion for recurrent pancreatitis due to lipoprotein lipase deficiency. ( 21415674 )
2011
41
A sweet heart: increased cardiac glucose uptake in patients with lipoprotein lipase deficiency. ( 21845510 )
2011
42
Lipoprotein lipase deficiency in an infant. ( 22080683 )
2011
43
Hyperlipidemia resulting in abnormal density and signal intensity of blood in a neonate with lipoprotein lipase deficiency. ( 20037129 )
2010
44
Lipoprotein lipase deficiency with visceral xanthomas. ( 20143060 )
2010
45
Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency. ( 20427244 )
2010
46
Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels. ( 19237736 )
2009
47
Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. ( 19295657 )
2009
48
Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. ( 20072945 )
2009
49
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. ( 18275685 )
2008
50
Xanthoma of bone associated with lipoprotein lipase deficiency. ( 18828009 )
2008

Variations for Hyperlipoproteinemia, Type I

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

76 (show top 50) (show all 70)
# 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.Asn318Ser VAR_004239 rs268
30 LPL p.Met328Thr VAR_004240 rs118158205
31 LPL p.Leu330Pro VAR_004241
32 LPL p.Ala361Thr VAR_004242 rs118204071
33 LPL p.Leu392Val VAR_004243 rs118204078
34 LPL p.Glu437Lys VAR_004245
35 LPL p.Glu437Val VAR_004246
36 LPL p.Asp36Asn VAR_011948 rs1801177
37 LPL p.Ala288Thr VAR_011949 rs1800011
38 LPL p.Asn70Ser VAR_057914
39 LPL p.Val96Leu VAR_057915 rs373088068
40 LPL p.Ala98Thr VAR_057916 rs145657341
41 LPL p.Thr128Ala VAR_057917
42 LPL p.Gly132Arg VAR_057918
43 LPL p.Gly181Val VAR_057919
44 LPL p.Asp183His VAR_057920 rs781614031
45 LPL p.Gly186Glu VAR_057921
46 LPL p.Glu190Gly VAR_057922
47 LPL p.Asp201Val VAR_057923
48 LPL p.Val208Ile VAR_057924 rs568397156
49 LPL p.His210Asp VAR_057925
50 LPL p.Gly215Arg VAR_057926

ClinVar genetic disease variations for Hyperlipoproteinemia, Type I:

6 (show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 LPL NM_000237.3(LPL): c.607G> A (p.Ala203Thr) single nucleotide variant Pathogenic rs118204056 GRCh37 Chromosome 8, 19811696: 19811696
2 LPL NM_000237.3(LPL): c.607G> A (p.Ala203Thr) single nucleotide variant Pathogenic rs118204056 GRCh38 Chromosome 8, 19954185: 19954185
3 LPL LPL, INS insertion Pathogenic
4 LPL nsv513798 duplication Pathogenic
5 LPL NM_000237.3(LPL): c.644G> A (p.Gly215Glu) single nucleotide variant Pathogenic rs118204057 GRCh37 Chromosome 8, 19811733: 19811733
6 LPL NM_000237.3(LPL): c.644G> A (p.Gly215Glu) single nucleotide variant Pathogenic rs118204057 GRCh38 Chromosome 8, 19954222: 19954222
7 LPL LPL, 6-KB DEL deletion Pathogenic
8 LPL NM_000237.3(LPL): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs118204058 GRCh37 Chromosome 8, 19809427: 19809427
9 LPL NM_000237.3(LPL): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs118204058 GRCh38 Chromosome 8, 19951916: 19951916
10 LPL NM_000237.3(LPL): c.811T> A (p.Ser271Thr) single nucleotide variant Pathogenic rs118204059 GRCh37 Chromosome 8, 19813387: 19813387
11 LPL NM_000237.3(LPL): c.811T> A (p.Ser271Thr) single nucleotide variant Pathogenic rs118204059 GRCh38 Chromosome 8, 19955876: 19955876
12 LPL NM_000237.3(LPL): c.250-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 19809279: 19809279
13 LPL NM_000237.3(LPL): c.250-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 19951768: 19951768
14 LPL NM_000237.3(LPL): c.701C> T (p.Pro234Leu) single nucleotide variant Pathogenic rs118204060 GRCh37 Chromosome 8, 19811790: 19811790
15 LPL NM_000237.3(LPL): c.701C> T (p.Pro234Leu) single nucleotide variant Pathogenic rs118204060 GRCh38 Chromosome 8, 19954279: 19954279
16 LPL NM_000237.3(LPL): c.693C> G (p.Asp231Glu) single nucleotide variant Pathogenic rs118204067 GRCh37 Chromosome 8, 19811782: 19811782
17 LPL NM_000237.3(LPL): c.693C> G (p.Asp231Glu) single nucleotide variant Pathogenic rs118204067 GRCh38 Chromosome 8, 19954271: 19954271
18 LPL NM_000237.3(LPL): c.662T> C (p.Ile221Thr) single nucleotide variant Pathogenic rs118204061 GRCh37 Chromosome 8, 19811751: 19811751
19 LPL NM_000237.3(LPL): c.662T> C (p.Ile221Thr) single nucleotide variant Pathogenic rs118204061 GRCh38 Chromosome 8, 19954240: 19954240
20 LPL NM_000237.3(LPL): c.809G> A (p.Arg270His) single nucleotide variant Pathogenic rs118204062 GRCh37 Chromosome 8, 19813385: 19813385
21 LPL NM_000237.3(LPL): c.809G> A (p.Arg270His) single nucleotide variant Pathogenic rs118204062 GRCh38 Chromosome 8, 19955874: 19955874
22 LPL NM_000237.3(LPL): c.300C> A (p.Tyr100Ter) single nucleotide variant Pathogenic rs118204074 GRCh37 Chromosome 8, 19809330: 19809330
23 LPL NM_000237.3(LPL): c.300C> A (p.Tyr100Ter) single nucleotide variant Pathogenic rs118204074 GRCh38 Chromosome 8, 19951819: 19951819
24 LPL NM_000237.3(LPL): c.506G> A (p.Gly169Glu) single nucleotide variant Pathogenic rs118204063 GRCh37 Chromosome 8, 19810897: 19810897
25 LPL NM_000237.3(LPL): c.506G> A (p.Gly169Glu) single nucleotide variant Pathogenic rs118204063 GRCh38 Chromosome 8, 19953386: 19953386
26 LPL NM_000237.3(LPL): c.548A> G (p.Asp183Gly) single nucleotide variant Pathogenic rs118204064 GRCh37 Chromosome 8, 19811637: 19811637
27 LPL NM_000237.3(LPL): c.548A> G (p.Asp183Gly) single nucleotide variant Pathogenic rs118204064 GRCh38 Chromosome 8, 19954126: 19954126
28 LPL NM_000237.3(LPL): c.1421C> G (p.Ser474Ter) single nucleotide variant Likely benign rs328 GRCh37 Chromosome 8, 19819724: 19819724
29 LPL NM_000237.3(LPL): c.1421C> G (p.Ser474Ter) single nucleotide variant Likely benign rs328 GRCh38 Chromosome 8, 19962213: 19962213
30 LPL NM_000237.3(LPL): c.249+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 19948341: 19948341
31 LPL NM_000237.3(LPL): c.249+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 19805852: 19805852
32 LPL NM_000237.3(LPL): c.264T> A (p.Tyr88Ter) single nucleotide variant Pathogenic rs118204065 GRCh37 Chromosome 8, 19809294: 19809294
33 LPL NM_000237.3(LPL): c.264T> A (p.Tyr88Ter) single nucleotide variant Pathogenic rs118204065 GRCh38 Chromosome 8, 19951783: 19951783
34 LPL NM_000237.3(LPL): c.1227G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs118204066 GRCh37 Chromosome 8, 19818499: 19818499
35 LPL NM_000237.3(LPL): c.1227G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs118204066 GRCh38 Chromosome 8, 19960988: 19960988
36 LPL NM_000237.3(LPL): c.742del (p.Ala248Leufs) deletion Pathogenic GRCh37 Chromosome 8, 19811831: 19811831
37 LPL NM_000237.3(LPL): c.742del (p.Ala248Leufs) deletion Pathogenic GRCh38 Chromosome 8, 19954320: 19954320
38 LPL NM_000237.3(LPL): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs118204068 GRCh37 Chromosome 8, 19813405: 19813405
39 LPL NM_000237.3(LPL): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs118204068 GRCh38 Chromosome 8, 19955894: 19955894
40 LPL NM_000237.3(LPL): c.337T> C (p.Trp113Arg) single nucleotide variant Pathogenic rs118204069 GRCh37 Chromosome 8, 19809367: 19809367
41 LPL NM_000237.3(LPL): c.337T> C (p.Trp113Arg) single nucleotide variant Pathogenic rs118204069 GRCh38 Chromosome 8, 19951856: 19951856
42 LPL NM_000237.3(LPL): c.272G> A (p.Trp91Ter) single nucleotide variant Pathogenic rs118204070 GRCh37 Chromosome 8, 19809302: 19809302
43 LPL NM_000237.3(LPL): c.272G> A (p.Trp91Ter) single nucleotide variant Pathogenic rs118204070 GRCh38 Chromosome 8, 19951791: 19951791
44 LPL NM_000237.3(LPL): c.88+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 8, 19939529: 19939529
45 LPL NM_000237.3(LPL): c.88+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 8, 19797040: 19797040
46 LPL NM_000237.3(LPL): c.1081G> A (p.Ala361Thr) single nucleotide variant Pathogenic rs118204071 GRCh37 Chromosome 8, 19816833: 19816833
47 LPL NM_000237.3(LPL): c.1081G> A (p.Ala361Thr) single nucleotide variant Pathogenic rs118204071 GRCh38 Chromosome 8, 19959322: 19959322
48 LPL NM_000237.3(LPL): c.596C> G (p.Ser199Cys) single nucleotide variant Pathogenic rs118204072 GRCh37 Chromosome 8, 19811685: 19811685
49 LPL NM_000237.3(LPL): c.596C> G (p.Ser199Cys) single nucleotide variant Pathogenic rs118204072 GRCh38 Chromosome 8, 19954174: 19954174
50 LPL NM_000237.3(LPL): c.306A> C (p.Arg102Ser) single nucleotide variant Pathogenic rs118204073 GRCh37 Chromosome 8, 19809336: 19809336

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:

38
# Name Kegg Source Accession
1 Glycerolipid metabolism hsa00561
2 PPAR signaling pathway hsa03320

GO Terms for Hyperlipoproteinemia, Type I

Sources for Hyperlipoproteinemia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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50 NCI
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58 OMIM
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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