Details of Disease

General Information of Disease (ID: DIS0ZNUU)

• Disease Name: Osteogenesis imperfecta type 6
• Synonyms: OI type 6; SERPINFI- related osteogenesis imperfecta; OI type VI; osteogenesis imperfecta type; osteogenesis imperfecta, type VI; osteogenesis imperfecta, type 6; OI6; SERPINF1 osteogenesis imperfecta; osteogenesis imperfecta type VI; osteogenesis imperfecta caused by mutation in SERPINF1
• Definition: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.
• Disease Hierarchy:
  DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
  DIS7XQSD: Osteogenesis imperfecta
  DIS0ZNUU: Osteogenesis imperfecta type 6
• Disease Identifiers:
  MONDO ID: MONDO_0013515
  MESH ID: C536047
  UMLS CUI: C3279564
  OMIM ID: 613982
  MedGen ID: 481194

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
SERPINF1	TTR59S1	Strong	Autosomal recessive	[1]
SERPINF1	TTR59S1	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFITM5	OTLP5QEJ	Strong	Genetic Variation	[3]
PNPLA2	OTR3ERMR	Strong	Genetic Variation	[2]
SERPINF1	OTWZH98J	Strong	Autosomal recessive	[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.
• [2] Pigment epithelium-derived factor (PEDF) reduced expression and synthesis of SOST/sclerostin in bone explant cultures: implication of PEDF-osteocyte gene regulation in vivo.J Bone Miner Metab. 2019 Sep;37(5):773-779. doi: 10.1007/s00774-018-0982-4. Epub 2019 Jan 3.
• [3] A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.J Bone Miner Res. 2014 Jun;29(6):1402-11. doi: 10.1002/jbmr.2173.