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HTGTI
MCID: HYP555
MIFTS: 39

Hypertriglyceridemia, Transient Infantile (HTGTI)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypertriglyceridemia, Transient Infantile

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MalaCards integrated aliases for Hypertriglyceridemia, Transient Infantile:

Name: Hypertriglyceridemia, Transient Infantile 56 73 29 13 6 71
Hypertriglyceridemia 43 71
Htgti 56 73
Transient Infantile Hypertriglyceridemia and Hepatosteatosis 58
Transient Infantile Hypertriglyceridemia and Fatty Liver 58

Characteristics:

Orphanet epidemiological data:

58
transient infantile hypertriglyceridemia and hepatosteatosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
serum triglycerides decrease with age
liver enzymes decrease with age


HPO:

31
hypertriglyceridemia, transient infantile:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare hepatic diseases


External Ids:

OMIM 56 614480
MeSH 43 D015228
Orphanet 58 ORPHA300293
MedGen 41 C3280953
UMLS 71 C0020557 C3280953
Sources

Summaries for Hypertriglyceridemia, Transient Infantile

About this section
OMIM : 56 Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. The long-term outcome of affected individuals is unclear (summary by Basel-Vanagaite et al., 2012). (614480)

MalaCards based summary : Hypertriglyceridemia, Transient Infantile, also known as hypertriglyceridemia, is related to hyperlipoproteinemia, type iv and familial lipoprotein lipase deficiency, and has symptoms including hypertriglyceridemic waist An important gene associated with Hypertriglyceridemia, Transient Infantile is GPD1 (Glycerol-3-Phosphate Dehydrogenase 1). The drugs Ciprofibrate and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include liver, endothelial and kidney, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 73 Hypertriglyceridemia, transient infantile: An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis.

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Related Diseases for Hypertriglyceridemia, Transient Infantile

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Diseases in the Hypertriglyceridemia, Familial family:

Hypertriglyceridemia, Transient Infantile

Diseases related to Hypertriglyceridemia, Transient Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 425)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type iv 11.8
2 familial lipoprotein lipase deficiency 11.7
3 hyperlipoproteinemia, type i 11.7
4 hyperlipidemia, familial combined, 3 11.7
5 lipase deficiency, combined 11.5
6 congenital generalized lipodystrophy 11.5
7 lipodystrophy, congenital generalized, type 1 11.5
8 lipodystrophy, congenital generalized, type 3 11.5
9 diarrhea 10, protein-losing enteropathy type 11.5
10 diabetes mellitus, noninsulin-dependent 11.5
11 apolipoprotein c-ii deficiency 11.4
12 familial partial lipodystrophy 11.4
13 tangier disease 11.4
14 hyperlipidemia, familial combined, 2 11.4
15 familial apolipoprotein c-ii deficiency 11.4
16 lipodystrophy, familial partial, type 4 11.3
17 acquired generalized lipodystrophy 11.3
18 lipodystrophy, familial partial, type 2 11.2
19 lipodystrophy, congenital generalized, type 2 11.2
20 alstrom syndrome 11.1
21 sea-blue histiocyte disease 11.1
22 glycogen storage disease ixa1 11.1
23 diabetes mellitus, noninsulin-dependent, 1 11.1
24 hemophagocytic lymphohistiocytosis, familial, 4 11.1
25 hemophagocytic lymphohistiocytosis, familial, 2 11.1
26 high density lipoprotein cholesterol level quantitative trait locus 1 11.1
27 lipodystrophy, familial partial, type 1 11.1
28 neutral lipid storage disease with myopathy 11.1
29 lipodystrophy, congenital generalized, type 4 11.1
30 lipodystrophy, familial partial, type 6 11.1
31 diabetes mellitus, noninsulin-dependent, 5 11.1
32 glycogen storage disease ixa 11.1
33 familial chylomicronemia due to inhibition of lipoprotein lipase activity 11.1
34 acute pancreatitis 11.0
35 pancreatitis 10.9
36 lipid metabolism disorder 10.8
37 hypercholesterolemia, familial, 1 10.7
38 hyperinsulinism 10.6
39 coronary heart disease 1 10.6
40 hyperglycemia 10.5
41 diabetes mellitus, ketosis-prone 10.5
42 fatty liver disease 10.5
43 atherosclerosis susceptibility 10.5
44 diabetes mellitus 10.5
45 glucose intolerance 10.5
46 fatty liver disease, nonalcoholic 1 10.4
47 body mass index quantitative trait locus 11 10.4
48 leukemia, acute lymphoblastic 10.4
49 hyperlipoproteinemia, type iii 10.4
50 huntington disease-like 3 10.4

Graphical network of the top 20 diseases related to Hypertriglyceridemia, Transient Infantile:



Diseases related to Hypertriglyceridemia, Transient Infantile
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Symptoms & Phenotypes for Hypertriglyceridemia, Transient Infantile

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Human phenotypes related to Hypertriglyceridemia, Transient Infantile:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 occasional (7.5%) HP:0001744
2 hepatomegaly 31 HP:0002240
3 short stature 31 HP:0004322
4 hypertriglyceridemia 31 HP:0002155
5 hepatic steatosis 31 HP:0001397
6 elevated hepatic transaminase 31 HP:0002910
7 hepatic fibrosis 31 HP:0001395

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatic fibrosis
abnormal liver enzymes
septal formation

Laboratory Abnormalities:
abnormal liver enzymes
hypertriglyceridemia, transient
increased urinary dicarboxylic acid, transient
increased serum cholesterol (in 3 of 10 patients)
abnormal serum lipoprotein levels (in 3 of 10 patients)

Growth Other:
poor growth (in some patients)

Growth Height:
short stature

Abdomen Spleen:
splenomegaly (in some patients)

Clinical features from OMIM:

614480

UMLS symptoms related to Hypertriglyceridemia, Transient Infantile:


hypertriglyceridemic waist
Sources

Drugs & Therapeutics for Hypertriglyceridemia, Transient Infantile

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Drugs for Hypertriglyceridemia, Transient Infantile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 320)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofibrate Approved, Investigational Phase 4 52214-84-3 2763
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Mycophenolic acid Approved Phase 4 24280-93-1 446541
4
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
5
Rilpivirine Approved Phase 4 500287-72-9
6
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
7
Cobicistat Approved Phase 4 1004316-88-4
8
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
9
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
10
Fosamprenavir Approved Phase 4 226700-79-4 131536
11
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
12
Atorvastatin Approved Phase 4 134523-00-5 60823
13
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
14
Simvastatin Approved Phase 4 79902-63-9 54454
15
Pravastatin Approved Phase 4 81093-37-0 54687
16
Ezetimibe Approved Phase 4 163222-33-1 150311
17
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
18
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
19
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
20
Atenolol Approved Phase 4 29122-68-7 2249
21
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
22
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
23
Polyestradiol phosphate Approved Phase 4 28014-46-2
24
Doxazosin Approved Phase 4 74191-85-8 3157
25
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
26
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
27
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
28
Clonidine Approved Phase 4 4205-90-7 2803
29
Ramipril Approved Phase 4 87333-19-5 5362129
30
Eplerenone Approved Phase 4 107724-20-9 150310 443872
31
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
32
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
33
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
34
Saxagliptin Approved Phase 4 361442-04-8 11243969
35
Glucagon Approved Phase 4 16941-32-5
36
Evolocumab Approved Phase 4 1256937-27-5
37
Fenofibrate Approved Phase 4 49562-28-9 3339
38 Fenofibric acid Approved Phase 4 42017-89-0
39
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
40
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
41
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
42 Coconut Approved Phase 4
43
Sorbitol Approved Phase 4 50-70-4 5780
44
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
45
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
47
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
48 Tocotrienol Investigational Phase 4 6829-55-6
49
Candesartan Experimental Phase 4 139481-59-7 2541
50 Chelating Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 408)
# Name Status NCT ID Phase Drugs
1 Dose Related Decrease in Triglycerides in Patients With Hypertriglyceridemia and Treated With Lovaza. Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
2 Effects of Fish Oil Supplementation on Vascular Structure and Function in Hypertensive Patients With Hypertriglyceridemia Unknown status NCT01480687 Phase 4 Ciprofibrate
3 Effectiveness and Tolerability of Early Initiation of Combined Lipid -Lowering Therapy Included Simvastatin and Fenofibrate vs Simvastatin Alone in Patients With Type 2 Diabetes Mellitus, Hypertriglyceridemia and Acute Coronary Syndrome Unknown status NCT02015988 Phase 4 Fenofibrate;Simvastatin
4 Study of the Effects of Lovaza (Omega 3 Fatty Acids) On Lipoprotein Particles and Their Transcriptional Effects Unknown status NCT01301794 Phase 4
5 The Effect of Omega-3 Fatty Acids on Hypertriglyceridemia in Patients With Type 2 Diabetes Mellitus Unknown status NCT03120299 Phase 4 Omega-3 fatty acid;Placebos
6 Effect of Liraglutide on Fatty Liver Content Evaluated by Proton-spectroscopy (1H-spectroscopy) and Lipoprotein Kinetic, in Patients With Type 2 Diabetes Unknown status NCT02721888 Phase 4 Liraglutide;MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
7 To Compare the Efficacy and Safety Between Pioglitazone Added to Combination Therapy of Sulfonylurea Plus Metformin and Placebo Control Group in Patients With Type 2 Diabetes Unknown status NCT00991055 Phase 4 Pioglitazone
8 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
9 The Effects of OMACOR on the LDL Sub-fraction in Korean Type 2 Diabetic Patients With Combined Hyperlipidemia Unknown status NCT00758927 Phase 4 Omega-3 acid 4 grams per day;Placebo control
10 Effects of a Chronical Treatment With Benfotiamine in People With Type 2 Diabetes Mellitus on Pre- and Postprandial Endothelial Function, as Well as on the Function of the Autonomic Nervous System Unknown status NCT00446810 Phase 4 Benfotiamine;Placebo
11 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
12 Efficacy and Safety of Certican® in Combination With Myfortic® in Adult Renal Allograft Recipients Following Calcineurin Inhibitor Withdrawal at Week 16 Compared to Patients Who Are Maintained on Tacrolimus and Myfortic® Unknown status NCT01399242 Phase 4 Certican
13 Effects of Fenofibrate on Adipocytokine Levels In Hypertriglyceridemic Patients Completed NCT00745407 Phase 4 fenofibrate
14 Vascular and Metabolic Effects of Fenofibrate/Omega vs Fenofibrate Completed NCT01666041 Phase 4 placebo;fenofibrate/omega;fenofibrate
15 Vascular and Metabolic Effects of Omega-3 Fatty Acids Completed NCT01660932 Phase 4 placebo;omega
16 Comparison of Fenofibrate and Niacin in Patients With Hypertriglyceridemia and Low High-Density Lipoprotein (HDL)-Cholesterol Completed NCT01122355 Phase 4 lipid modification
17 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
18 Differential Metabolic Effects of Fenofibrate and Fatty Acid Completed NCT01003847 Phase 4 fenofibrate, fatty acid, placebo
19 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
20 Efficacy and Safety of Prescription Omega-3 Fatty Acid Added to Stable Statin Therapy in Patients With Type 2 Diabetes and Hypertriglyceridemia Completed NCT02305355 Phase 4 Omega-3-acids ethylesters 90 4g;Pravastatin, Simvastatin, Atorvastatin, Rosuvastatin
21 Omega-3 Fatty Acids (Lovaza) for Second Generation Antipsychotic-Associated Hypertriglyceridemia Completed NCT00833976 Phase 4 Lovaza
22 A Randomized, Double-Blind, Placebo-Controlled Study of N-3 Fatty Acid on Plasma Triglyceride Levels in Hypertriglyceridemic HIV Patients Receiving Highly Active Antiretroviral Therapy Completed NCT00346697 Phase 4 Omega-3 fatty acid administration;Placebo
23 A Pilot, Open-Label Study of Adjunctive Therapy With Lovaza® in Hypertriglyceridemic, HIV-Infected Subjects Who Switched Protease Inhibitor to Once-Daily Lexiva® 1400mg Plus Norvir® 100mg Plus Optimized Background Completed NCT01010399 Phase 4 fosamprenavir/ritonavir
24 Effects of Exenatide on Postprandial Hyperlipidemia and Inflammation Completed NCT00974272 Phase 4 Exenatide
25 Regulation of Lipoprotein Kinetics by Atorvastatin and Fenofibrate With the Metabolic Syndrome Completed NCT00632840 Phase 4 Atorvastatin and fenofibrate
26 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Phase IV Study to Assess the Efficacy and Safety of Adjunctive Omacor Therapy in Hypertriglyceridemic Subjects Treated With Antara, Followed by an 8-week Extension Completed NCT00246636 Phase 4 Antara (fenofibrate) + Lovaza;Antara (fenofibrate)
27 A Second Open-Label Extension of a Double-Blind, Parallel, Phase IV Study to Assess the Efficacy and Safety of Adjunctive Lovaza® (Formerly Known as Omacor®) Therapy in Hypertriglyceridemic Subjects Treated With Antara™ Completed NCT00891293 Phase 4 Antara (fenofibrate) + Lovaza (omega-3-acid ethyl esters)
28 Effects of Omega-3 Fatty Acids From Fish Oil on the Gene Expression in Healthy Humans and Humans With Hypertriglyceridemia Completed NCT01089231 Phase 4
29 Effect of Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) on Metabolic Syndrome Completed NCT01625442 Phase 4 Saffron tablet;Barberry tablet;Placebo
30 Exploratory Study of the Effect of Omega-3-acid Ethyl Esters on Vascular Endothelial Function in Patients With Hyperlipidemia by Flow Mediated Dilation Completed NCT02824432 Phase 4 TAK-085
31 Effects of Fenofibrate on Endothelial Progenitor Cell Levels in Diabetic Patients With Retinopathy. A Randomized Controlled Trial. Completed NCT01927315 Phase 4 Fenofibrate 145 mg;Placebo
32 An Open-label, Multi-center Study to Evaluate the Efficacy and Safety of Statin-fenofibrate Combination Therapy in Dyslipidemic Chinese Patients Completed NCT01462877 Phase 4 fenofibrate
33 Multicenter,Double Blind,Randomized, 2-period, Crossover Study to Compare Ezetimibe/Simvastatin (10mg/10 mg) Combination Tablet Versus Simvastatin 80mg Tablet on Postprandial Arterial Endothelial Function in Patients With Metabolic Syndrome Completed NCT00817843 Phase 4 Simvastatin;Simvastatin/Ezetimibe
34 Effect of Plant Sterols Esterified to Fish Oil Fatty Acids on Plasma Lipid Levels in Healthy, Hyperlipidemic Subjects Completed NCT00441480 Phase 4
35 Effect of Different Enteral Nutrition Formulas on Glucose Homeostasis Completed NCT03012867 Phase 4
36 The Role of Lovaza® on Microvascular Function and Lipoprotein Profile in Type 2 Diabetes Completed NCT00931879 Phase 4 omega-3-ethyl esters;Placebo
37 Study of Niacin and Rosiglitazone in Dysmetabolic Dyslipidemia Completed NCT00304993 Phase 4 fenofibrate;niacin;rosiglitazone
38 Qualitative and Quantitative Characterization of HDL in T2D After Fenofibrate or Niacin Treatment in Spanish Population Completed NCT02153879 Phase 4 Fenofibrate;Niacin plus laropiprant
39 Mentored Patient Oriented Research Career Development Award Completed NCT00361075 Phase 4 transdermal estradiol patch (Vivelle), oral estrogen (Estrace), progesterone (Prometrium)
40 Nephropathy in Type 2 Diabetes: Effects of an Intensive Multifactorial Intervention Trial on Cardio-renal Events. Completed NCT00535925 Phase 4 SoC therapy;irbesartan;ramipril;hydrochlorothiazide;furosemide;amlodipine;atenolol;doxazosin;clonidine;insulin;simvastatin;fibrate;erythropoietin;aspirin
41 The Impact of Omega Three Fatty Acids on Vascular Function in HIV Completed NCT01041521 Phase 4 Lovaza
42 The Effects of Night-time Versus Morning Administration of Eplerenone on the Diurnal Variation of Plasminogen Activator Inhibitor-1 Completed NCT00515021 Phase 4 Eplerenone (Morning);Eplerenone (Night-time)
43 Weight Loss Improves Renal Hemodynamics in Patients With Metabolic Syndrome Completed NCT01356394 Phase 4
44 Effects of Treatment With Omacor for 6 Weeks on Preprandial and Postprandial Endothelial Function Following a High Fat Meal in Patients With Type 2 Diabetes Mellitus Completed NCT00328536 Phase 4 Omacor
45 The Effects of Ezetimibe on Postprandial Hyperlipidemia and Endothelial Dysfunction in Patients With the Metabolic Syndrome. Completed NCT00189085 Phase 4 simvastatin and ezetimibe
46 A Phase IV-III Comparative, Randomized, Open-label Study to Evaluate the Efficacy for the Recovery of Peripheral Fat (or of the Extremities) of Lopinavir/Ritonavir in Monotherapy Versus Abacavir/Lamivudine and Lopinavir/Ritonavir Completed NCT00865007 Phase 4 Monotherapy (Lopinavir/ritonavir);Monotherapy (Lopinavir/ritonavir) + ABC/3TC
47 Niacin, N-3 Fatty Acids and Insulin Resistance Completed NCT00286234 Phase 4 omega-3 acid ethyl esters;extended release niacin;placebo;omega-3 acid ethyl esters;combined treatment
48 Efficacy and Safety of a Mixed Extract of Fenugreek Seed and Lespedeza Cuneata in the Treatment of Testosterone Deficiency Syndrome: A Randomized, Double-blind, Placebo-Controlled Clinical Trial Completed NCT03057899 Phase 4 TFG capsules (200 mg /capsule);Placebo oral capsule
49 Omega-3 PUFA Suppress Adipochemokines Completed NCT02010359 Phase 4 Lovaza;Placebo
50 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate

Search NIH Clinical Center for Hypertriglyceridemia, Transient Infantile

Inferred drug relations via UMLS 71 / NDF-RT 50 :


atorvastatin
Atorvastatin calcium
cerivastatin
Cerivastatin sodium
Cholestyramine Resin
Clofibrate
colesevelam
Colesevelam hydrochloride
Colestipol
Colestipol Hydrochloride
Fenofibrate
fluvastatin
Fluvastatin sodium
Gemfibrozil
Lovastatin
pitavastatin
Pravastatin
Pravastatin Sodium
rosuvastatin
Simvastatin

Cochrane evidence based reviews: hypertriglyceridemia

Sources

Genetic Tests for Hypertriglyceridemia, Transient Infantile

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Genetic tests related to Hypertriglyceridemia, Transient Infantile:

# Genetic test Affiliating Genes
1 Hypertriglyceridemia, Transient Infantile 29 GPD1
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Anatomical Context for Hypertriglyceridemia, Transient Infantile

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MalaCards organs/tissues related to Hypertriglyceridemia, Transient Infantile:

40
Liver, Endothelial, Kidney, Heart, Bone, Brain, Spinal Cord
Sources

Publications for Hypertriglyceridemia, Transient Infantile

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Articles related to Hypertriglyceridemia, Transient Infantile:

# Title Authors PMID Year
1
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. 56 6
24549054 2014
2
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. 56 6
22226083 2012
3
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report. 61
29940878 2018
Sources

Variations for Hypertriglyceridemia, Transient Infantile

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ClinVar genetic disease variations for Hypertriglyceridemia, Transient Infantile:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPD1 NM_005276.4(GPD1):c.361-1G>CSNV Pathogenic 29741 rs200327418 12:50500070-50500070 12:50106287-50106287
2 GPD1 NM_005276.4(GPD1):c.686G>C (p.Arg229Pro)SNV Pathogenic 157542 rs199673455 12:50501423-50501423 12:50107640-50107640
3 GPD1 NM_005276.4(GPD1):c.953+1G>ASNV Likely pathogenic 804465 12:50501914-50501914 12:50108131-50108131

UniProtKB/Swiss-Prot genetic disease variations for Hypertriglyceridemia, Transient Infantile:

73
# Symbol AA change Variation ID SNP ID
1 GPD1 p.Arg229Pro VAR_071967 rs199673455

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Expression for Hypertriglyceridemia, Transient Infantile

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Search GEO for disease gene expression data for Hypertriglyceridemia, Transient Infantile.
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Pathways for Hypertriglyceridemia, Transient Infantile

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GO Terms for Hypertriglyceridemia, Transient Infantile

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Sources for Hypertriglyceridemia, Transient Infantile

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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