MCID: HYP555
MIFTS: 31

Hypertriglyceridemia, Transient Infantile

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, 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 147)
# Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia, familial 12.4
2 familial lipoprotein lipase deficiency 11.4
3 hyperlipidemia, familial combined 11.4
4 lipodystrophy, familial partial, type 2 11.2
5 diabetes mellitus, noninsulin-dependent 11.2
6 hyperlipoproteinemia, type iv 11.2
7 apolipoprotein c-ii deficiency 11.1
8 lipodystrophy, congenital generalized, type 2 10.9
9 lipodystrophy, congenital generalized, type 1 10.9
10 lipodystrophy, congenital generalized, type 3 10.9
11 lipodystrophy, familial partial, type 4 10.9
12 hyperlipoproteinemia, type i 10.8
13 sea-blue histiocyte disease 10.8
14 glycogen storage disease ixa1 10.8
15 diabetes mellitus, noninsulin-dependent, 1 10.8
16 hemophagocytic lymphohistiocytosis, familial, 4 10.8
17 hemophagocytic lymphohistiocytosis, familial, 2 10.8
18 high density lipoprotein cholesterol level quantitative trait locus 1 10.8
19 lipodystrophy, familial partial, type 1 10.8
20 neutral lipid storage disease with myopathy 10.8
21 lipodystrophy, congenital generalized, type 4 10.8
22 lipodystrophy, familial partial, type 6 10.8
23 diabetes mellitus, noninsulin-dependent, 5 10.8
24 congenital generalized lipodystrophy 10.8
25 glycogen storage disease ixa 10.8
26 pancreatitis 10.6
27 acute pancreatitis 10.5
28 hepatitis 10.3
29 diabetes mellitus 10.2
30 endotheliitis 10.1
31 leukemia 10.1
32 leukemia, acute lymphoblastic 10.1
33 lymphoblastic leukemia 10.1
34 recurrent acute pancreatitis 10.0
35 diabetes mellitus, ketosis-prone 10.0
36 fatty liver disease, nonalcoholic 1 10.0
37 fatty liver disease 10.0
38 coronary heart disease 1 9.9
39 heart disease 9.9
40 hyperglycemia 9.9
41 arteries, anomalies of 9.9
42 aging 9.9
43 coronary artery anomaly 9.9
44 glucose intolerance 9.9
45 thalassemia 9.8
46 hypothyroidism 9.8
47 hypercholesterolemia, familial 9.7
48 prostate cancer 9.7
49 endometrial cancer 9.7
50 acute promyelocytic leukemia 9.7

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

AbdomenSpleen:
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 elevated hepatic transaminases 32 HP:0002910
7 hepatic fibrosis 32 HP:0001395

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

Publications for Hypertriglyceridemia, Transient Infantile

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
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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
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