MCID: HYP768
MIFTS: 36

Hyperlipoproteinemia, Type I

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

Aliases & Classifications for Hyperlipoproteinemia, Type I

MalaCards integrated aliases for Hyperlipoproteinemia, Type I:

Name: Hyperlipoproteinemia, Type I 57 37 29 6 40
Lipoprotein Lipase Deficiency 57 76 75 13
Lpl Deficiency 57 59 75
Hyperlipoproteinemia Type I 76 73
Lipoprotein Lipase 13 6
Hyperlipemia, Idiopathic, Burger-Grutz Type 57
Familial Lipoprotein Lipase Deficiency 59
Familial Hyperchylomicronemia Syndrome 73
Familial Chylomicronemia Syndrome 29
Hyperlipemia, Essential Familial 57
Hyperchylomicronemia, Familial 57
Hyperlipoproteinemia, Type Ia 57
Familial Hyperchylomicronemia 76
Hyperlipoproteinemia Type Ia 75
Hyperlipoproteinemia Type 1a 75
Chylomicronemia, Familial 57
Familial Chylomicronemia 75
Lipase D Deficiency 57
Lipd Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
multiple alleles and compounds


HPO:

32
hyperlipoproteinemia, type i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperlipoproteinemia, Type I

UniProtKB/Swiss-Prot : 75 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 Miconazole and Mycophenolate mofetil have been mentioned in the context of this disorder. Related phenotypes are depressivity and diabetes mellitus

Wikipedia : 76 Lipoprotein lipase deficiency (also known as \"familial chylomicronemia syndrome\", \"chylomicronemia\",... 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:

# Related Disease Score Top Affiliating Genes
1 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase 12.0
2 familial lipoprotein lipase deficiency 11.4
3 pancreatitis 10.0
4 type i 9.9

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


Hypertension, Essential Intermediate Coronary Syndrome
Ischemic Heart Disease

Symptoms & Phenotypes for Hyperlipoproteinemia, Type I

Symptoms via clinical synopsis from OMIM:

57
GI:
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

Human phenotypes related to Hyperlipoproteinemia, Type I:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 very rare (1%) HP:0000716
2 diabetes mellitus 32 very rare (1%) HP:0000819
3 failure to thrive 32 occasional (7.5%) HP:0001508
4 nausea and vomiting 32 occasional (7.5%) HP:0002017
5 splenomegaly 32 HP:0001744
6 vomiting 32 HP:0002013
7 hypertriglyceridemia 32 obligate (100%) HP:0002155
8 pulmonary embolism 32 very rare (1%) HP:0002204
9 hepatic steatosis 32 frequent (33%) HP:0001397
10 jaundice 32 very rare (1%) HP:0000952
11 pancreatitis 32 HP:0001733
12 memory impairment 32 very rare (1%) HP:0002354
13 hyperlipidemia 32 HP:0003077
14 dementia 32 very rare (1%) HP:0000726
15 hypercholesterolemia 32 HP:0003124
16 episodic abdominal pain 32 hallmark (90%) HP:0002574
17 hepatosplenomegaly 32 hallmark (90%) HP:0001433
18 recurrent pancreatitis 32 hallmark (90%) HP:0100027
19 nausea 32 HP:0002018
20 eruptive xanthomas 32 frequent (33%) HP:0001013
21 acute pancreatitis 32 hallmark (90%) HP:0001735
22 abnormal emotion/affect behavior 32 very rare (1%) HP:0100851
23 lipemia retinalis 32 hallmark (90%) HP:0000660
24 perianal abscess 32 very rare (1%) HP:0009789
25 increased circulating chylomicron concentration 32 obligate (100%) HP:0012238
26 lactescent serum 32 HP:0031028

Drugs & Therapeutics for Hyperlipoproteinemia, Type I

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 3 22916-47-8 4189
2
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 3 128794-94-5 5281078
3
Mycophenolic acid Approved Phase 2, Phase 3,Phase 3 24280-93-1 446541
4
Fosamprenavir Approved Phase 3,Phase 1,Phase 2 226700-79-4 131536
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3
8 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3
9 Antifungal Agents Phase 2, Phase 3,Phase 3
10 Anti-Infective Agents Phase 2, Phase 3,Phase 3
11 Antirheumatic Agents Phase 2, Phase 3,Phase 3
12 Antitubercular Agents Phase 2, Phase 3,Phase 3
13 Calcineurin Inhibitors Phase 2, Phase 3,Phase 3
14 Cyclosporins Phase 2, Phase 3,Phase 3
15 Dermatologic Agents Phase 2, Phase 3,Phase 3
16 Immunosuppressive Agents Phase 2, Phase 3,Phase 3
17 Antiemetics Phase 2, Phase 3
18 Anti-Inflammatory Agents Phase 2, Phase 3
19 Antineoplastic Agents, Hormonal Phase 2, Phase 3
20 Autonomic Agents Phase 2, Phase 3
21 Gastrointestinal Agents Phase 2, Phase 3
22 glucocorticoids Phase 2, Phase 3
23 Hormone Antagonists Phase 2, Phase 3
24 Hormones Phase 2, Phase 3
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
26 Methylprednisolone acetate Phase 2, Phase 3
27 Methylprednisolone Hemisuccinate Phase 2, Phase 3
28 Neuroprotective Agents Phase 2, Phase 3
29 Peripheral Nervous System Agents Phase 2, Phase 3
30 Prednisolone acetate Phase 2, Phase 3
31 Prednisolone hemisuccinate Phase 2, Phase 3
32 Prednisolone phosphate Phase 2, Phase 3
33 Protective Agents Phase 2, Phase 3
34
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
35 Anti-Obesity Agents Phase 2
36
Heparin Approved, Investigational 9005-49-6 772 46507594
37 Anticoagulants
38 calcium heparin
39 Calcium, Dietary
40 Fibrinolytic Agents

Interventional clinical trials:

(show all 18)
# 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 Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2 CAT-2003;Placebo
8 Safety, Tolerability,Pharmacokinetics(PK)and Pharmacodynamics(PD)Assessment of LCQ908 in Patients With Severe Hypertriglyceridemia Completed NCT01146522 Phase 1, Phase 2 LCQ908;Placebo
9 Phase 2 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
10 Orlistat for the Treatment of Type I Hyperlipoproteinemia Recruiting NCT02767531 Phase 2 Orlistat
11 Gemcabene for the Treatment of Pediatric NAFLD 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 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
14 Biomarker for Homozygous Familial Hypercholesterolemia Recruiting NCT03198897
15 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Active, not recruiting NCT02656095 Heparin
16 Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients Active, not recruiting NCT03293810
17 Volanesorsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
18 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 29 LPL
2 Familial Chylomicronemia Syndrome 29

Anatomical Context for Hyperlipoproteinemia, Type I

Publications for Hyperlipoproteinemia, Type I

Articles related to Hyperlipoproteinemia, Type I:

# Title Authors Year
1
Hyperlipoproteinemia type I in a patient with active lipoprotein lipase in adipose tissue and indications of defective transport of the enzyme. ( 2205700 )
1990

Variations for Hyperlipoproteinemia, Type I

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

75 (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
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
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 186)
# Gene Variation Type Significance SNP ID Assembly Location
1 LPL NM_000237.2(LPL): c.607G> A (p.Ala203Thr) single nucleotide variant Pathogenic rs118204056 GRCh37 Chromosome 8, 19811696: 19811696
2 LPL NM_000237.2(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_000237.2(LPL): c.644G> A (p.Gly215Glu) single nucleotide variant Pathogenic rs118204057 GRCh37 Chromosome 8, 19811733: 19811733
6 LPL NM_000237.2(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_000237.2(LPL): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs118204058 GRCh37 Chromosome 8, 19809427: 19809427
9 LPL NM_000237.2(LPL): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs118204058 GRCh38 Chromosome 8, 19951916: 19951916
10 LPL NM_000237.2(LPL): c.811T> A (p.Ser271Thr) single nucleotide variant Pathogenic rs118204059 GRCh37 Chromosome 8, 19813387: 19813387
11 LPL NM_000237.2(LPL): c.811T> A (p.Ser271Thr) single nucleotide variant Pathogenic rs118204059 GRCh38 Chromosome 8, 19955876: 19955876
12 LPL LPL, IVS2DS, G-A single nucleotide variant Pathogenic
13 LPL NM_000237.2(LPL): c.701C> T (p.Pro234Leu) single nucleotide variant Pathogenic rs118204060 GRCh37 Chromosome 8, 19811790: 19811790
14 LPL NM_000237.2(LPL): c.701C> T (p.Pro234Leu) single nucleotide variant Pathogenic rs118204060 GRCh38 Chromosome 8, 19954279: 19954279
15 LPL NM_000237.2(LPL): c.693C> G (p.Asp231Glu) single nucleotide variant Pathogenic rs118204067 GRCh37 Chromosome 8, 19811782: 19811782
16 LPL NM_000237.2(LPL): c.693C> G (p.Asp231Glu) single nucleotide variant Pathogenic rs118204067 GRCh38 Chromosome 8, 19954271: 19954271
17 LPL NM_000237.2(LPL): c.662T> C (p.Ile221Thr) single nucleotide variant Pathogenic rs118204061 GRCh37 Chromosome 8, 19811751: 19811751
18 LPL NM_000237.2(LPL): c.662T> C (p.Ile221Thr) single nucleotide variant Pathogenic rs118204061 GRCh38 Chromosome 8, 19954240: 19954240
19 LPL NM_000237.2(LPL): c.809G> A (p.Arg270His) single nucleotide variant Pathogenic rs118204062 GRCh37 Chromosome 8, 19813385: 19813385
20 LPL NM_000237.2(LPL): c.809G> A (p.Arg270His) single nucleotide variant Pathogenic rs118204062 GRCh38 Chromosome 8, 19955874: 19955874
21 LPL NM_000237.2(LPL): c.300C> A (p.Tyr100Ter) single nucleotide variant Pathogenic rs118204074 GRCh37 Chromosome 8, 19809330: 19809330
22 LPL NM_000237.2(LPL): c.300C> A (p.Tyr100Ter) single nucleotide variant Pathogenic rs118204074 GRCh38 Chromosome 8, 19951819: 19951819
23 LPL NM_000237.2(LPL): c.506G> A (p.Gly169Glu) single nucleotide variant Pathogenic rs118204063 GRCh37 Chromosome 8, 19810897: 19810897
24 LPL NM_000237.2(LPL): c.506G> A (p.Gly169Glu) single nucleotide variant Pathogenic rs118204063 GRCh38 Chromosome 8, 19953386: 19953386
25 LPL NM_000237.2(LPL): c.548A> G (p.Asp183Gly) single nucleotide variant Pathogenic rs118204064 GRCh37 Chromosome 8, 19811637: 19811637
26 LPL NM_000237.2(LPL): c.548A> G (p.Asp183Gly) single nucleotide variant Pathogenic rs118204064 GRCh38 Chromosome 8, 19954126: 19954126
27 LPL LPL, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
28 LPL NM_000237.2(LPL): c.264T> A (p.Tyr88Ter) single nucleotide variant Pathogenic rs118204065 GRCh37 Chromosome 8, 19809294: 19809294
29 LPL NM_000237.2(LPL): c.264T> A (p.Tyr88Ter) single nucleotide variant Pathogenic rs118204065 GRCh38 Chromosome 8, 19951783: 19951783
30 LPL NM_000237.2(LPL): c.1227G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs118204066 GRCh37 Chromosome 8, 19818499: 19818499
31 LPL NM_000237.2(LPL): c.1227G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs118204066 GRCh38 Chromosome 8, 19960988: 19960988
32 LPL LPL, 1-BP DEL, 916G deletion Pathogenic
33 LPL NM_000237.2(LPL): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs118204068 GRCh37 Chromosome 8, 19813405: 19813405
34 LPL NM_000237.2(LPL): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs118204068 GRCh38 Chromosome 8, 19955894: 19955894
35 LPL NM_000237.2(LPL): c.337T> C (p.Trp113Arg) single nucleotide variant Pathogenic rs118204069 GRCh37 Chromosome 8, 19809367: 19809367
36 LPL NM_000237.2(LPL): c.337T> C (p.Trp113Arg) single nucleotide variant Pathogenic rs118204069 GRCh38 Chromosome 8, 19951856: 19951856
37 LPL NM_000237.2(LPL): c.272G> A (p.Trp91Ter) single nucleotide variant Pathogenic rs118204070 GRCh37 Chromosome 8, 19809302: 19809302
38 LPL NM_000237.2(LPL): c.272G> A (p.Trp91Ter) single nucleotide variant Pathogenic rs118204070 GRCh38 Chromosome 8, 19951791: 19951791
39 LPL LPL, IVS1, G-C, +1 single nucleotide variant Pathogenic
40 LPL NM_000237.2(LPL): c.1081G> A (p.Ala361Thr) single nucleotide variant Pathogenic rs118204071 GRCh37 Chromosome 8, 19816833: 19816833
41 LPL NM_000237.2(LPL): c.1081G> A (p.Ala361Thr) single nucleotide variant Pathogenic rs118204071 GRCh38 Chromosome 8, 19959322: 19959322
42 LPL NM_000237.2(LPL): c.596C> G (p.Ser199Cys) single nucleotide variant Pathogenic rs118204072 GRCh37 Chromosome 8, 19811685: 19811685
43 LPL NM_000237.2(LPL): c.596C> G (p.Ser199Cys) single nucleotide variant Pathogenic rs118204072 GRCh38 Chromosome 8, 19954174: 19954174
44 LPL NM_000237.2(LPL): c.306A> C (p.Arg102Ser) single nucleotide variant Pathogenic rs118204073 GRCh37 Chromosome 8, 19809336: 19809336
45 LPL NM_000237.2(LPL): c.306A> C (p.Arg102Ser) single nucleotide variant Pathogenic rs118204073 GRCh38 Chromosome 8, 19951825: 19951825
46 LPL NM_000237.2(LPL): c.665G> A (p.Gly222Glu) single nucleotide variant Pathogenic rs118204075 GRCh37 Chromosome 8, 19811754: 19811754
47 LPL NM_000237.2(LPL): c.665G> A (p.Gly222Glu) single nucleotide variant Pathogenic rs118204075 GRCh38 Chromosome 8, 19954243: 19954243
48 LPL NM_000237.2(LPL): c.621C> G (p.Asp207Glu) single nucleotide variant Pathogenic rs118204076 GRCh37 Chromosome 8, 19811710: 19811710
49 LPL NM_000237.2(LPL): c.621C> G (p.Asp207Glu) single nucleotide variant Pathogenic rs118204076 GRCh38 Chromosome 8, 19954199: 19954199
50 LPL NM_000237.2(LPL): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs118204077 GRCh37 Chromosome 8, 19813384: 19813384

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....