Details of Disease

General Information of Disease (ID: DIS8KE3U)

• Disease Name: Hypercholesterolemia, autosomal dominant, 3
• Synonyms: Fh3; HCHOLA3; low density lipoprotein cholesterol level quantitative trait locus 1; low density lipoprotein cholesterol level QTL 1; familial hypercholesterolemia caused by mutation in PCSK9; hypercholesterolemia, autosomal dominant, type 3; PCSK9 familial hypercholesterolemia; hypercholesterolemia, familial, 3; hypercholesterolemia, autosomal dominant, 3
• Definition: Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.
• Disease Hierarchy:
  DISC06IX: Familial hypercholesterolemia
  DIS8KE3U: Hypercholesterolemia, autosomal dominant, 3
• Disease Identifiers:
  MONDO ID: MONDO_0011369
  MESH ID: C566337
  UMLS CUI: C1863551
  OMIM ID: 603776
  MedGen ID: 355007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PCSK9	TTNIZ2B	Strong	CausalMutation	[1]
PCSK9	TTBRG7E	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCSK9	OTI0DU9Y	Definitive	Autosomal dominant	[2]

References

• [1] Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.J Clin Lipidol. 2016 May-Jun;10(3):547-555.e5. doi: 10.1016/j.jacl.2015.12.024. Epub 2016 Jan 6.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.