Details of Disease

General Information of Disease (ID: DISGVEAN)

• Disease Name: Osteogenesis imperfecta type 8
• Synonyms: OI type VIII; osteogenesis imperfecta, type 8; OI, type 8; osteogenesis imperfecta, type VIII; OI8; osteogenesis imperfecta caused by mutation in P3H1; osteogenesis imperfecta type VIII; osteogenesis imperfecta type 8; P3H1 osteogenesis imperfecta
• Definition: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.
• Disease Hierarchy:
  DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
  DIS7XQSD: Osteogenesis imperfecta
  DISGVEAN: Osteogenesis imperfecta type 8
• Disease Identifiers:
  MONDO ID: MONDO_0012581
  MESH ID: C536049
  UMLS CUI: C1970458
  OMIM ID: 610915
  MedGen ID: 410075

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PPIB	TT6ZFQ4	Strong	Genetic Variation	[1]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
P3H1	DEW527E	Strong	CausalMutation	[2]
P3H1	DEW527E	Definitive	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
P3H1	OT2TFW25	Definitive	Autosomal recessive	[3]

References

• [1] Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.J Proteomics. 2017 Sep 7;167:46-59. doi: 10.1016/j.jprot.2017.08.007. Epub 2017 Aug 9.
• [2] Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18.
• [3] Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16.