Details of Disease

General Information of Disease (ID: DISB1KP3)

• Disease Name: Hyperlipoproteinemia type V
• Synonyms: hyperlipidemia, type 5; hyperlipoproteinemia, type 5; hyperlipoproteinemia, type V; hyperlipoproteinemia type 5; hyperchylomicronemia late onset; mixed hyperlipemia; hyperlipemia mixed; hyperchylomicronemia with Hyperprebetalipoproteinemia, familial; type V hyperlipoproteinemia; hyperchylomicronemia, late-onset; hyperlipemia, combined fat and carbohydrate-induced; hyperlipidemia type V; hyperlipemia combined fat and carbohydrate-induced; hyperlipemia, mixed; familial apolipoprotein a5 deficiency; familial type 5 hyperlipoproteinemia; major hyperlipidemia; familial APOA5 deficiency; familial hyperlipoproteinemia type V; HLP type 5; familial apolipoprotein A-V deficiency; Fredrickson type V lipaemia
• Definition: A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.
• Disease Hierarchy:
  DIS4R2OG: Hyperlipidaemia
  DISB1KP3: Hyperlipoproteinemia type V
• Disease Identifiers:
  MONDO ID: MONDO_0007762
  MESH ID: D006954
  UMLS CUI: C0020481
  OMIM ID: 144650
  MedGen ID: 5693
  Orphanet ID: 530849
  SNOMED CT ID: 34349009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOA5	OTEVKLVA	Strong	Autosomal dominant	[1]

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.