Hypertriglyceridemia, Transient Infantile disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare hepatic diseases

External Ids:

OMIM ⁵⁷ 614480

Orphanet ⁵⁹ ORPHA300293

MedGen ⁴² C3280953

MeSH ⁴⁴ D015228

SNOMED-CT via HPO ⁶⁹ 258211005 62484002 197321007 more

UMLS ⁷³ C3280953 C0020557

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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.

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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
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:

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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

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Drugs & Therapeutics for Hypertriglyceridemia, Transient Infantile

Search Clinical Trials , NIH Clinical Center for Hypertriglyceridemia, Transient Infantile

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

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

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Genetic Tests for Hypertriglyceridemia, Transient Infantile

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

MalaCards organs/tissues related to Hypertriglyceridemia, Transient Infantile:

⁴¹

Liver

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Publications for Hypertriglyceridemia, Transient Infantile

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Genes for Hypertriglyceridemia, Transient Infantile

Genes related to Hypertriglyceridemia, Transient Infantile (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GPD1	Glycerol-3-Phosphate Dehydrogenase 1	Protein Coding	1677.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24549054 22226083

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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

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Expression for Hypertriglyceridemia, Transient Infantile

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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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hypertriglyceridemia, Transient Infantile

Aliases & Classifications for Hypertriglyceridemia, Transient Infantile

MalaCards integrated aliases for Hypertriglyceridemia, Transient Infantile:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypertriglyceridemia, Transient Infantile

Related Diseases for Hypertriglyceridemia, Transient Infantile

Diseases in the Hypertriglyceridemia, Familial family:

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

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

Symptoms & Phenotypes for Hypertriglyceridemia, Transient Infantile

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Hypertriglyceridemia, Transient Infantile:

UMLS symptoms related to Hypertriglyceridemia, Transient Infantile:

Drugs & Therapeutics for Hypertriglyceridemia, Transient Infantile

Inferred drug relations via UMLS 73 / NDF-RT 51 :

Cochrane evidence based reviews: hypertriglyceridemia

Genetic Tests for Hypertriglyceridemia, Transient Infantile

Genetic tests related to Hypertriglyceridemia, Transient Infantile:

Anatomical Context for Hypertriglyceridemia, Transient Infantile

MalaCards organs/tissues related to Hypertriglyceridemia, Transient Infantile:

Publications for Hypertriglyceridemia, Transient Infantile

Genes for Hypertriglyceridemia, Transient Infantile

Genes related to Hypertriglyceridemia, Transient Infantile (1 elite genes):

Variations for Hypertriglyceridemia, Transient Infantile

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

ClinVar genetic disease variations for Hypertriglyceridemia, Transient Infantile:

Expression for Hypertriglyceridemia, Transient Infantile

Pathways for Hypertriglyceridemia, Transient Infantile

GO Terms for Hypertriglyceridemia, Transient Infantile

Sources for Hypertriglyceridemia, Transient Infantile

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :