Details of Disease

General Information of Disease (ID: DISHS3IF)

• Disease Name: Familial hypobetalipoproteinemia 1
• Synonyms: acanthocytosis with hypobetalipoproteinemia; FHBL; hypobetalipoproteinemia, familial, 1; hypobetalipoproteinemia, Normotriglyceridemic; hypobetalipoproteinemia, familial; hypobetalipoproteinemia; APOB hypobetalipoproteinemia; FHBL1; familial hypobetalipoproteinemia 1; familial hypobetalipoproteinemia type 1; hypobetalipoproteinemia, familial, type 1; hypobetalipoproteinemia caused by mutation in APOB
• Definition: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.
• Disease Hierarchy:
  DIS0TPI3: Hypobetalipoproteinemia
  DISHS3IF: Familial hypobetalipoproteinemia 1
• Disease Identifiers:
  MONDO ID: MONDO_0014252
  MESH ID: C566267
  UMLS CUI: C4551990
  OMIM ID: 615558
  MedGen ID: 1639219

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOB	TTN1IE2	Strong	Genetic Variation	[1]
ANGPTL3	TT59GO7	Definitive	Genetic Variation	[1]
APOB	TT2718H	Definitive	Semidominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOB	OTH0UOCZ	Definitive	Semidominant	[2]

References

• [1] Clinical and biochemical characteristics of individuals with low cholesterol syndromes: Acomparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.J Clin Lipidol. 2017 Sep-Oct;11(5):1234-1242. doi: 10.1016/j.jacl.2017.06.013. Epub 2017 Jun 24.
• [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.