Hypertriglyceridemia, Transient Infantile (HTGTI)

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

Aliases & Classifications for Hypertriglyceridemia, Transient Infantile

MalaCards integrated aliases for Hypertriglyceridemia, Transient Infantile:

Name: Hypertriglyceridemia, Transient Infantile 57 73 29 13 6 71
Hypertriglyceridemia 44 71
Htgti 57 73
Transient Infantile Hypertriglyceridemia and Hepatosteatosis 58
Transient Infantile Hypertriglyceridemia and Fatty Liver 58


Orphanet epidemiological data:

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


57 (Updated 05-Mar-2021)
autosomal recessive

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


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


Orphanet: 58  
Rare hepatic diseases

External Ids:

OMIM® 57 614480
MeSH 44 D015228
Orphanet 58 ORPHA300293
MedGen 41 C3280953
UMLS 71 C0020557 C3280953

Summaries for Hypertriglyceridemia, Transient Infantile

OMIM® : 57 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) (Updated 05-Mar-2021)

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

Related Diseases for Hypertriglyceridemia, Transient Infantile

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 420)
# Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia, familial 11.8
2 hyperlipoproteinemia, type iv 11.2
3 familial lipoprotein lipase deficiency 11.1
4 hyperlipidemia, familial combined, 3 11.1
5 hyperlipoproteinemia, type i 11.1
6 type 2 diabetes mellitus 11.1
7 lipodystrophy, familial partial, type 4 11.0
8 acquired generalized lipodystrophy 11.0
9 congenital generalized lipodystrophy 11.0
10 lipase deficiency, combined 11.0
11 lipodystrophy, congenital generalized, type 3 11.0
12 diarrhea 10, protein-losing enteropathy type 11.0
13 lipodystrophy, familial partial, type 2 11.0
14 lipodystrophy, congenital generalized, type 2 11.0
15 lipodystrophy, congenital generalized, type 1 11.0
16 acute pancreatitis 10.9
17 pancreatitis 10.9
18 apolipoprotein c-ii deficiency 10.9
19 familial partial lipodystrophy 10.9
20 tangier disease 10.8
21 hyperlipidemia, familial combined, 2 10.8
22 familial apolipoprotein c-ii deficiency 10.8
23 type 1 diabetes mellitus 2 10.8
24 alstrom syndrome 10.8
25 sea-blue histiocyte disease 10.8
26 glycogen storage disease ixa1 10.8
27 hemophagocytic lymphohistiocytosis, familial, 4 10.8
28 hemophagocytic lymphohistiocytosis, familial, 2 10.8
29 high density lipoprotein cholesterol level quantitative trait locus 1 10.8
30 lipodystrophy, familial partial, type 1 10.8
31 neutral lipid storage disease with myopathy 10.8
32 lipodystrophy, congenital generalized, type 4 10.8
33 lipodystrophy, familial partial, type 6 10.8
34 type 2 diabetes 5 10.8
35 glycogen storage disease ixa 10.8
36 familial chylomicronemia due to inhibition of lipoprotein lipase activity 10.8
37 lipid metabolism disorder 10.8
38 hypercholesterolemia, familial, 1 10.7
39 hyperinsulinism 10.6
40 coronary heart disease 1 10.5
41 non-alcoholic fatty liver disease 10.5
42 diabetes mellitus, ketosis-prone 10.5
43 diabetes mellitus 10.5
44 hyperglycemia 10.5
45 fatty liver disease 10.5
46 glucose intolerance 10.4
47 body mass index quantitative trait locus 11 10.4
48 fatty liver disease, nonalcoholic 1 10.4
49 body mass index quantitative trait locus 9 10.3
50 body mass index quantitative trait locus 8 10.3

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

Diseases related to Hypertriglyceridemia, Transient Infantile

Symptoms & Phenotypes for Hypertriglyceridemia, Transient Infantile

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®:

57 (Updated 05-Mar-2021)
Abdomen Liver:
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 (Updated 05-Mar-2021)

UMLS symptoms related to Hypertriglyceridemia, Transient Infantile:

hypertriglyceridemic waist

Drugs & Therapeutics for Hypertriglyceridemia, Transient Infantile

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

(show top 50) (show all 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Metformin Approved Phase 4 657-24-9 14219 4091
Ciprofibrate Approved, Investigational Phase 4 52214-84-3 2763
Saxagliptin Approved Phase 4 361442-04-8 11243969
Glucagon Approved Phase 4 16941-32-5
Pravastatin Approved Phase 4 81093-37-0 54687
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
Atorvastatin Approved Phase 4 134523-00-5 60823
Simvastatin Approved Phase 4 79902-63-9 54454
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
Doxazosin Approved Phase 4 74191-85-8 3157
Amlodipine Approved Phase 4 88150-42-9 2162
Ramipril Approved Phase 4 87333-19-5 5362129
Atenolol Approved Phase 4 29122-68-7 2249
Clonidine Approved Phase 4 4205-90-7 2803
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
Ezetimibe Approved Phase 4 163222-33-1 150311
Fenofibrate Approved Phase 4 49562-28-9 3339
23 Fenofibric acid Approved Phase 4 42017-89-0
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
27 Hypoglycemic Agents Phase 4
28 HIV Protease Inhibitors Phase 4
protease inhibitors Phase 4
30 Hormone Antagonists Phase 4
31 Glucagon-Like Peptide 1 Phase 4
32 Dipeptidyl-Peptidase IV Inhibitors Phase 4
33 Incretins Phase 4
34 Eicosapentaenoic acid ethyl ester Phase 4
35 Platelet Aggregation Inhibitors Phase 4
36 Clofibric Acid Phase 4 882-09-7
37 Vitamin B3 Phase 4
38 Nicotinic Acids Phase 4
39 Anti-HIV Agents Phase 4
40 Antiviral Agents Phase 4
41 Anti-Retroviral Agents Phase 4
42 Cytochrome P-450 Enzyme Inhibitors Phase 4
43 Micronutrients Phase 4
44 Trace Elements Phase 4
45 Vitamins Phase 4
46 Nutrients Phase 4
47 Anti-Inflammatory Agents Phase 4
48 Analgesics, Non-Narcotic Phase 4
49 Cyclooxygenase Inhibitors Phase 4
50 Fibrinolytic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 230)
# 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 Randomized, Controlled, Open-label Trial of Intravenous Intensive Insulin for Severe/Moderate Hypertriglyceridemia Pancreatitis. Unknown status NCT03501680 Phase 4 Insulin
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 Effects of Fish Oil Supplementation on Vascular Structure and Function in Hypertensive Patients With Hypertriglyceridemia Unknown status NCT01480687 Phase 4 Ciprofibrate
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 Randomized, Controlled, Multicenter Studies of the Effects of Intravenous Administration of Insulin and Plasma Exchange on Triglyceride Levels in Early Stage of Hypertriglyceridemia-induced Pancreatitis Unknown status NCT03342807 Phase 4 Insulin
7 Study of the Effects of Lovaza (Omega 3 Fatty Acids) On Lipoprotein Particles and Their Transcriptional Effects Unknown status NCT01301794 Phase 4
8 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
9 Effects of Dipeptidyl Peptidase-4 Inhibition With Saxagliptin on Fasting and Postprandial Triglyceride Concentrations Unknown status NCT01527747 Phase 4 Saxagliptin
10 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
11 Effect of Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) on Metabolic Syndrome Completed NCT01625442 Phase 4 Saffron tablet;Barberry tablet;Placebo
12 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
13 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
14 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
15 Comparison of Fenofibrate and Niacin in Patients With Hypertriglyceridemia and Low High-Density Lipoprotein (HDL)-Cholesterol Completed NCT01122355 Phase 4 lipid modification
16 Effects of Omega-3 Fatty Acids From Fish Oil on the Gene Expression in Healthy Humans and Humans With Hypertriglyceridemia Completed NCT01089231 Phase 4
17 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
18 Omega-3 Fatty Acids (Lovaza) for Second Generation Antipsychotic-Associated Hypertriglyceridemia Completed NCT00833976 Phase 4 Lovaza
19 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
20 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)
21 Effects of Fenofibrate on Adipocytokine Levels In Hypertriglyceridemic Patients Completed NCT00745407 Phase 4 fenofibrate
22 Vascular and Metabolic Effects of Omega-3 Fatty Acids Completed NCT01660932 Phase 4 placebo;omega
23 Effect of Vascepa on Progression of Coronary Atherosclerosis in Persons With Elevated Triglycerides (200-499) on Statin Therapy Completed NCT02926027 Phase 4 Vascepa;placebo
24 Differential Metabolic Effects of Fenofibrate and Fatty Acid Completed NCT01003847 Phase 4 fenofibrate, fatty acid, placebo
25 Vascular and Metabolic Effects of Fenofibrate/Omega vs Fenofibrate Completed NCT01666041 Phase 4 placebo;fenofibrate/omega;fenofibrate
26 The Role of Lovaza® on Microvascular Function and Lipoprotein Profile in Type 2 Diabetes Completed NCT00931879 Phase 4 omega-3-ethyl esters;Placebo
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 The Impact of Omega Three Fatty Acids on Vascular Function in HIV Completed NCT01041521 Phase 4 Lovaza
29 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
30 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
31 Regulation of Lipoprotein Kinetics by Atorvastatin and Fenofibrate With the Metabolic Syndrome Completed NCT00632840 Phase 4 Atorvastatin and fenofibrate
32 A Multi-center, Randomized, Open-label, Active-controlled, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of EzetimiBe/Rosuvastatin Diabetic Dislipidemia With Hypertriglyceridaemia Recruiting NCT04700436 Phase 4 Rosuzet tablet 10/5 mg (Ezetimibe 10 mg/Rosuvastatin 5 mg)
33 Mechanisms of Atheroprotection by Fenofibric Acid (ABT 335) Added to a Statin in Subjects With Insulin Resistance (Hypertriglyceridemia and Low HDL-C) Terminated NCT01025492 Phase 4 Trilipix;placebo
34 Rosiglitazone And Fenofibrate Additive Effects on Lipids (RAFAEL) Terminated NCT00819910 Phase 4 Rosiglitazone;Placebo (Rosiglitazone);Placebo (Fenofibrate);Fenofibrate
35 A Double-Blind, Placebo-Controlled, Parallel-Group, Multi-Center Study to Investigate the Effect of Omacor (n-3 PUFA) on Lipid Parameters in HIV Infected Subjects Treated With HAART Terminated NCT00598910 Phase 4 Omacor;Placebo
36 Effects of Lovaza Monotherapy vs. Placebo on Composition and Function of HDL and Other Lipoproteins, and on Other Lipid-Related Parameters Withdrawn NCT01180764 Phase 4 Lovaza (Omega-3 acid ethyl esters);Placebo
37 Open-label Study to Evaluate the Effects of Once Daily Extraneal (7.5% Icodextrin) Peritoneal Dialysis Solution on Triglyceride Levels in Peritoneal Dialysis Patients Withdrawn NCT00397358 Phase 4 Extraneal (7.5% icodextrin) Peritoneal Dialysis Solution
38 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Phase III Study to Assess Efficacy and Safety of AKR-963 Therapy in Subjects With Severe Hypertriglyceridemia Unknown status NCT01229566 Phase 3 AKR-963
39 A 12-Week, Randomized, Double-Blind, Corn Oil-Controlled Phase 3 Study to Assess the Efficacy and Safety of Omega-3-Acid Ethyl Esters 90 Soft Capsules in Subjects With Severe Hypertriglyceridemia Unknown status NCT02625870 Phase 3 Omega-3-Acid Ethyl Esters 90 Soft Capsules;Corn Oil
40 Evaluation of the Efficacy and Safety of AMR101 (Ethyl Icosapentate) in Patients With Fasting Triglyceride Levels ≥ 500 mg/dL and ≤ 2000 mg/dL Completed NCT01047683 Phase 3 AMR101 (ethyl icosapentate);AMR101 (ethyl icosapentate);Placebo;Placebo
41 Evaluation of the Effect of Two Doses of AMR101 (Ethyl Icosapentate) on Fasting Serum Triglyceride Levels in Patients With Persistent High Triglyceride Levels (≥ 200 mg/dL and < 500 mg/dL) Despite Statin Therapy Completed NCT01047501 Phase 3 AMR101 (ethyl icosapentate);AMR101 (ethyl icosapentate);Placebo;Placebo
42 Phase 3 Study of Vitamin D and Omega-3 Supplementation to Reduce Risk of Metabolic Syndrome Completed NCT01326442 Phase 3
43 An Open Label Safety and Efficacy Trial of Fenofibrate in Persons With SCI Completed NCT02455336 Phase 2, Phase 3 Fenofibrate
44 A Phase 3 Long-term Study of TAK-085 in Subjects With Hypertriglyceridemia Completed NCT01350999 Phase 3 omega-3-acid ethyl esters 90 (TAK-085);Eicosapentaenoic acid-ethyl (EPA)
45 A Phase 3, Multicenter, Double-blind, Parallel-group Study to Evaluate the Efficacy and Safety of TAK-085 in Subjects With Hypertriglyceridemia. Completed NCT01350973 Phase 3 Omega-3-acid ethyl esters 90 (TAK-085);Eicosapentaenoic acid-ethyl (EPA-E)
46 Efficacy and Safety of Epanova® (Omefas) in Severe Hypertriglyceridemia Completed NCT01242527 Phase 2, Phase 3 placebo;omefas;omefas;omefas
47 A Long-Term Outcomes Study to Assess STatin Residual Risk Reduction With EpaNova in HiGh Cardiovascular Risk PatienTs With Hypertriglyceridemia (STRENGTH) Completed NCT02104817 Phase 3 Epanova® (omega-3 carboxylic acids);corn oil control
48 Totum-63 Effect on Glucose and Lipid Homeostasis in People With Abdominal Obesity Associated With Impaired Glucose Tolerance or Untreated Type 2 Diabetes and Hypertriglyceridemia Completed NCT02868177 Phase 2, Phase 3
49 Phase 3, Multi-Site, Double-Blind, Randomized, Forced Titration, Parallel Group Evaluation Of The Efficacy, Safety, And Tolerability Of Fixed Combination Torcetrapib (CP 529,414)/Atorvastatin Administered Orally, Once Daily (Qd) For Eighteen Weeks, Compared With Atorvastatin Alone, In Subjects With Fredrickson Type IV Hypertriglyceridemia Completed NCT00134498 Phase 3 torcetrapib/atorvastatin;atorvastatin
50 A 6-Week, Randomized, Double-Blind, Placebo(Olive Oil)-Controlled Study to Assess the Efficacy and Safety of Add-On Epanova® to Statin Therapy in Subjects With Persistent Hypertriglyceridemia and High Risk for Cardiovascular Disease Completed NCT01408303 Phase 3 Olive oil, 4g;omega-3-carboxylic acids, 2g;omega-3-carboxylic acids, 4g

Search NIH Clinical Center for Hypertriglyceridemia, Transient Infantile

Inferred drug relations via UMLS 71 / NDF-RT 51 :

Atorvastatin calcium
Cerivastatin sodium
Cholestyramine Resin
Colesevelam hydrochloride
Colestipol Hydrochloride
Fluvastatin sodium
Pravastatin Sodium

Cochrane evidence based reviews: hypertriglyceridemia

Genetic Tests for Hypertriglyceridemia, Transient Infantile

Genetic tests related to Hypertriglyceridemia, Transient Infantile:

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

Anatomical Context for Hypertriglyceridemia, Transient Infantile

MalaCards organs/tissues related to Hypertriglyceridemia, Transient Infantile:

Liver, Skeletal Muscle, Endothelial

Publications for Hypertriglyceridemia, Transient Infantile

Articles related to Hypertriglyceridemia, Transient Infantile:

# Title Authors PMID Year
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. 6 57
24549054 2014
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. 57
22226083 2012
[Transient infantile hypertriglyceridemia caused by GPD1 deficiency: report of two cases and literature review]. 61
33120465 2020
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

Variations for Hypertriglyceridemia, Transient Infantile

ClinVar genetic disease variations for Hypertriglyceridemia, Transient Infantile:

# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPD1 NM_005276.4(GPD1):c.361-1G>C SNV 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>A SNV Likely pathogenic 804465 rs1592303371 12:50501914-50501914 12:50108131-50108131

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

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

Expression for Hypertriglyceridemia, Transient Infantile

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

Pathways for Hypertriglyceridemia, Transient Infantile

GO Terms for Hypertriglyceridemia, Transient Infantile

Sources for Hypertriglyceridemia, Transient Infantile

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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