Details of Disease | DrugMAP

General Information of Disease (ID: DIS9H0TD)

Disease Name	Transient infantile hypertriglyceridemia and hepatosteatosis
Synonyms	hypertriglyceridemia, transient infantile; HTGTI; transient infantile hypertriglyceridemia and fatty liver; transient infantile hypertriglyceridemia and hepatosteatosis
Disease Hierarchy	DISYKSRF: Genetic disease DIS2OMMF: Liver disease DIS9H0TD: Transient infantile hypertriglyceridemia and hepatosteatosis
Disease Identifiers	MONDO ID MONDO_0013771 UMLS CUI C3280953 OMIM ID 614480 MedGen ID 482583 Orphanet ID 300293

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GPD1	TTKTEAH	Strong	Autosomal recessive	[1]
GPD1	TTKTEAH	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPD1	OTQW7TMB	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.BMC Gastroenterol. 2018 Jun 25;18(1):96. doi: 10.1186/s12876-018-0827-6.