HTGTI
MCID: HYP555
MIFTS: 41

Hypertriglyceridemia, Transient Infantile (HTGTI)

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Hypertriglyceridemia, Transient Infantile

MalaCards integrated aliases for Hypertriglyceridemia, Transient Infantile:

Name: Hypertriglyceridemia, Transient Infantile 57 75 29 13 6 73
Hypertriglyceridemia 44 73
Htgti 57 75
Transient Infantile Hypertriglyceridemia and Hepatosteatosis 59
Transient Infantile Hypertriglyceridemia and Fatty Liver 59

Characteristics:

Orphanet epidemiological data:

59
transient infantile hypertriglyceridemia and hepatosteatosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hypertriglyceridemia, transient infantile:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare hepatic diseases


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)

MalaCards based summary : Hypertriglyceridemia, Transient Infantile, also known as hypertriglyceridemia, is related to hypertriglyceridemia, familial 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). Affiliated tissues include liver, kidney and brain, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 75 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 171)
# Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia, familial 12.7
2 familial lipoprotein lipase deficiency 11.6
3 hyperlipidemia, familial combined 11.5
4 hyperlipoproteinemia, type iv 11.3
5 diabetes mellitus, noninsulin-dependent 11.3
6 apolipoprotein c-ii deficiency 11.3
7 lipodystrophy, familial partial, type 4 11.2
8 lipodystrophy, familial partial, type 2 11.1
9 lipodystrophy, congenital generalized, type 2 11.1
10 lipodystrophy, congenital generalized, type 1 11.1
11 lipodystrophy, congenital generalized, type 3 11.1
12 hyperlipoproteinemia, type i 10.9
13 sea-blue histiocyte disease 10.9
14 glycogen storage disease ixa1 10.9
15 diabetes mellitus, noninsulin-dependent, 1 10.9
16 hemophagocytic lymphohistiocytosis, familial, 4 10.9
17 hemophagocytic lymphohistiocytosis, familial, 2 10.9
18 high density lipoprotein cholesterol level quantitative trait locus 1 10.9
19 lipodystrophy, familial partial, type 1 10.9
20 neutral lipid storage disease with myopathy 10.9
21 lipodystrophy, congenital generalized, type 4 10.9
22 lipodystrophy, familial partial, type 6 10.9
23 diabetes mellitus, noninsulin-dependent, 5 10.9
24 congenital generalized lipodystrophy 10.9
25 glycogen storage disease ixa 10.9
26 pancreatitis 10.8
27 acute pancreatitis 10.7
28 diabetes mellitus 10.4
29 diabetes mellitus, ketosis-prone 10.2
30 lymphocytic leukemia 10.2
31 fatty liver disease 10.2
32 leukemia, acute lymphoblastic 10.2
33 hyperglycemia 10.2
34 recurrent acute pancreatitis 10.2
35 fatty liver disease, nonalcoholic 1 10.1
36 glucose intolerance 10.1
37 coronary heart disease 1 10.1
38 leukemia 10.1
39 liver disease 10.1
40 heart disease 10.1
41 arteries, anomalies of 10.1
42 coronary artery anomaly 10.1
43 chronic kidney failure 10.0
44 nonalcoholic fatty liver disease 10.0
45 nephrotic syndrome 10.0
46 kidney disease 10.0
47 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
48 thalassemia 10.0
49 vascular disease 10.0
50 hyperinsulinism 10.0

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



Diseases related to Hypertriglyceridemia, Transient Infantile

Symptoms & Phenotypes for Hypertriglyceridemia, Transient Infantile

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hypertriglyceridemia, Transient Infantile:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 occasional (7.5%) HP:0001744
2 hepatomegaly 32 HP:0002240
3 short stature 32 HP:0004322
4 hypertriglyceridemia 32 HP:0002155
5 hepatic steatosis 32 HP:0001397
6 hepatic fibrosis 32 HP:0001395
7 elevated hepatic transaminase 32 HP:0002910

UMLS symptoms related to Hypertriglyceridemia, Transient Infantile:


hypertriglyceridemic waist

Drugs & Therapeutics for Hypertriglyceridemia, Transient Infantile

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:

41
Liver, Kidney, Brain, Ovary, Prostate, Lung, Heart

Publications for Hypertriglyceridemia, Transient Infantile

Articles related to Hypertriglyceridemia, Transient Infantile:

(show top 50) (show all 349)
# Title Authors Year
1
Hypertriglyceridemia-Associated Drug-Induced Acute Pancreatitis. ( 30531242 )
2019
2
Pseudohyponatremia in Hypertriglyceridemia-Induced Acute Pancreatitis: A Tool for Diagnosis Rather Than Merely a Laboratory Error? ( 30540682 )
2019
3
Clinical whole exome sequencing in severe hypertriglyceridemia. ( 30389453 )
2019
4
Double filtration plasmapheresis in treatment of acute pancreatitis associated with severe hypertriglyceridemia: Three case reports. ( 30383651 )
2018
5
Low-Grade Inflammation in the Association Between Mild-to-Moderate Hypertriglyceridemia and Risk of Acute Pancreatitis: A Study of More Than 115000 Individuals from the General Population. ( 30518661 )
2018
6
Everolimus-Induced Severe Hypertriglyceridemia and Acute Pancreatitis in a Patient With Tuberous Sclerosis: A Case Report. ( 30074535 )
2018
7
The Effects of Laparoscopic Sleeve Gastrectomy on Obesity-Related Hypertriglyceridemia-Induced Acute Pancreatitis. ( 30094578 )
2018
8
Are There Differences in the Management of Acute Pancreatitis Cases Due to Severe Hypertriglyceridemia in Pregnant Women? ( 30100601 )
2018
9
Continuous intravenous infusion of insulin and heparin versus plasma exchange in hypertriglyceridemia-induced acute pancreatitis. ( 30117293 )
2018
10
Management of Hypertriglyceridemia Induced Acute Pancreatitis. ( 30148167 )
2018
11
A Rare Case of Acute Pancreatitis Due to Very Severe Hypertriglyceridemia (>10 000 mg/dL) Successfully Resolved With Insulin Therapy Alone: A Case Report and Literature Review. ( 30186885 )
2018
12
Abruptio Placentae Caused by Hypertriglyceridemia-Induced Acute Pancreatitis during Pregnancy: Case Report and Literature Review. ( 30254776 )
2018
13
Acute pancreatitis secondary to oral contraceptive-induced hypertriglyceridemia: a case report. ( 29782195 )
2018
14
Dilated cardiomyopathy secondary to acute pancreatitis caused by hypertriglyceridemia. ( 29876048 )
2018
15
Significantly different clinical features between hypertriglyceridemia and biliary acute pancreatitis: a retrospective study of 730 patients from a tertiary center. ( 29914404 )
2018
16
ACUTE PANCREATITIS IN PATIENTS WITH SEVERE HYPERTRIGLYCERIDEMIA IN A MULTI-ETHNIC MINORITY POPULATION. ( 29498913 )
2018
17
Hypertriglyceridemia-Induced Acute Pancreatitis with Normal Pancreatic Enzymes. ( 29530731 )
2018
18
Acute pancreatitis secondary to hypertriglyceridemia precipitated by diabetic ketoacidosis in a previously undiagnosed ketosis-prone patient with diabetes mellitus. ( 29706815 )
2018
19
CLINICAL CASE REPORT ON ACUTE PANCREATITIS WITH CONCOMITANT T2DM AND HYPERTRIGLYCERIDEMIA. ( 29745912 )
2018
20
Life-Threatening Hypertriglyceridemia in a Patient on Ruxolitinib and Sirolimus for Chronic Graft-versus-Host Disease. ( 30519495 )
2018
21
Association of APOA5 and APOC3 Genetic Polymorphisms With Severity of Hypertriglyceridemia in Patients With Cutaneous T-Cell Lymphoma Treated With Bexarotene. ( 30422238 )
2018
22
Effects of free omega-3 carboxylic acids and fenofibrate on liver fat content in patients with hypertriglyceridemia and non-alcoholic fatty liver disease: A double-blind, randomized, placebo-controlled study. ( 30197273 )
2018
23
Clinically Actionable Hypercholesterolemia and Hypertriglyceridemia in Children with Nonalcoholic Fatty Liver Disease. ( 29661561 )
2018
24
Recurrent pancreatitis due to autoimmune hypertriglyceridemia in a patient with Graves' disease. ( 29273424 )
2018
25
Hypertriglyceridemia Causing Continuous Renal Replacement Therapy Dysfunction in a Patient with End-stage Liver Disease. ( 30158750 )
2018
26
Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Questions. ( 29532231 )
2018
27
Nephrotic syndrome associated with severe hypertriglyceridemia in a pediatric patient: Answers. ( 29532233 )
2018
28
Therapeutic plasma exchange for hypertriglyceridemia induced acut pancreatitis: the 33 cases experience from a tertiary reference center in Turkey. ( 30289402 )
2018
29
Moderate Hypertriglyceridemia Causing Recurrent Pancreatitis: A Case Report and the Literature Review. ( 30345124 )
2018
30
Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence. ( 30352774 )
2018
31
Lipemia Retinalis, Macular Edema, and Vision Loss in a Diabetic Patient with a History of Type IV Hypertriglyceridemia and Pancreatitis. ( 30386228 )
2018
32
Hypertriglyceridemia-Induced Pancreatitis: A Case Series of 56 Patients from One Institution. ( 30454508 )
2018
33
Metabolic Pancreatitis: Pancreatic Steatosis, Hypertriglyceridemia, and Associated Chronic Pancreatitis in 3 Patients with Metabolic Syndrome. ( 30022925 )
2018
34
Total Plasma Exchange in Hypertriglyceridemia-Induced Pancreatitis: Case Report and Literature Review. ( 29686710 )
2018
35
The effect of intravenous insulin, apheresis and oral lipid-lowering agents on non-fasting hypertriglyceridemia and associated pancreatitis. ( 29702000 )
2018
36
Eruptive xanthoma in the setting of hypertriglyceridemia and pancreatitis. ( 29716801 )
2018
37
Hypertriglyceridemia-induced pancreatitis: updated review of current treatment and preventive strategies. ( 29923163 )
2018
38
The beneficial therapy with colchicine for atherosclerosis via anti-inflammation and decrease in hypertriglyceridemia. ( 30526472 )
2018
39
Metabolomics-Based Clinical Efficacy and Effect on the Endogenous Metabolites of Tangzhiqing Tablet, a Chinese Patent Medicine for Type 2 Diabetes Mellitus with Hypertriglyceridemia. ( 30140295 )
2018
40
Gallic Acid Alleviates Hypertriglyceridemia and Fat Accumulation via Modulating Glycolysis and Lipolysis Pathways in Perirenal Adipose Tissues of Rats Fed a High-Fructose Diet. ( 29342975 )
2018
41
Lipemia retinalis as the presenting sign of undiagnosed type 1 diabetes mellitus resulting in severe secondary hypertriglyceridemia. ( 30096374 )
2018
42
Higher Risk of Abdominal Obesity, Elevated Low-Density Lipoprotein Cholesterol, and Hypertriglyceridemia, but not of Hypertension, in People Living With Human Immunodeficiency Virus (HIV): Results From the Copenhagen Comorbidity in HIV Infection Study. ( 29471519 )
2018
43
Combination therapy of omega-3 fatty acids and acipimox for children with hypertriglyceridemia and acute lymphoblastic leukemia. ( 30055974 )
2018
44
Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient. ( 29129660 )
2018
45
Metformin attenuates myocardium dicarbonyl stress induced by chronic hypertriglyceridemia. ( 29137475 )
2018
46
Exchange transfusions for extreme hypertriglyceridemia in a 7-week-old infant with multi-organ failure. ( 29174071 )
2018
47
Intake of green-plant membrane with dietary oil suppresses postprandial hypertriglyceridemia in rats via promoting excretion of bile acids. ( 29207918 )
2018
48
Efficacy and Safety of Adding Omega-3 Fatty Acids in Statin-treated Patients with Residual Hypertriglyceridemia: ROMANTIC (Rosuvastatin-OMAcor iN residual hyperTrIglyCeridemia), a Randomized, Double-blind, and Placebo-controlled Trial. ( 29223557 )
2018
49
A common variant in ARHGEF10 alters delta-6 desaturase activity and influence susceptibility to hypertriglyceridemia. ( 29246731 )
2018
50
Images in Anesthesiology: A Clogged Dialysis Filter Caused by Severe Acutely Induced Hypertriglyceridemia. ( 29278533 )
2018

Variations for Hypertriglyceridemia, Transient Infantile

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

75
# Symbol AA change Variation ID SNP ID
1 GPD1 p.Arg229Pro VAR_071967 rs199673455

ClinVar genetic disease variations for Hypertriglyceridemia, Transient Infantile:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPD1 NM_005276.3(GPD1): c.361-1G> C single nucleotide variant Pathogenic rs200327418 GRCh37 Chromosome 12, 50500070: 50500070
2 GPD1 NM_005276.3(GPD1): c.361-1G> C single nucleotide variant Pathogenic rs200327418 GRCh38 Chromosome 12, 50106287: 50106287
3 GPD1 NM_005276.3(GPD1): c.686G> C (p.Arg229Pro) single nucleotide variant Pathogenic rs199673455 GRCh37 Chromosome 12, 50501423: 50501423
4 GPD1 NM_005276.3(GPD1): c.686G> C (p.Arg229Pro) single nucleotide variant Pathogenic rs199673455 GRCh38 Chromosome 12, 50107640: 50107640

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

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74 UMLS via Orphanet
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