Details of Disease

Disease Name

Osteogenesis imperfecta type 2

osteogenesis imperfecta congenita perinatal lethal form; osteogenesis imperfecta congenita; Perinatally lethal OI; osteogenesis imperfecta, type II; osteogenesis imperfecta, type 2; osteogenesis imperfecta congenita, perinatal lethal form; OI, type 2; OI2; Vrolik type of osteogenesis imperfecta; perinatal lethal osteogenesis imperfecta congenita; osteogenesis imperfecta type 2; osteogenesis imperfecta type II; OI type 2; lethal osteogenesis imperfecta

Definition

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

Disease Hierarchy

DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.

DISMGSS3: Osteogenesis imperfecta type 2

Disease Identifiers

MONDO ID

MONDO_0008147

MESH ID

C536042

UMLS CUI

C0268358

OMIM ID

166210

MedGen ID

75673

Orphanet ID

216804

SNOMED CT ID

205496008

General Information of Disease (ID: DISMGSS3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PPIB	TT6ZFQ4	Supportive	Autosomal dominant	[1]
IL31RA	TT9HPX0	moderate	Genetic Variation	[2]
COL1A2	TTUABC1	Strong	GermlineCausalMutation	[1]
PPIB	TT6ZFQ4	Strong	GermlineCausalMutation	[1]
COL1A2	TTUABC1	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
P3H1	DEW527E	Supportive	Autosomal dominant	[1]
P3H1	DEW527E	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRTAP	OT53H5U6	Supportive	Autosomal dominant	[1]
MESD	OT3B2H8F	Supportive	Autosomal dominant	[4]
P3H1	OT2TFW25	Supportive	Autosomal dominant	[1]
PPIB	OTLPH6KN	Supportive	Autosomal dominant	[1]
SMPD3	OTHQBETH	Strong	Biomarker	[5]
COL1A1	OTI31178	Definitive	Autosomal dominant	[3]
COL1A2	OTY7G382	Definitive	Autosomal dominant	[3]
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⏷ Show the Full List of 7 DOT(s)

References

1	Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15.
2	Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.Proc Natl Acad Sci U S A. 1985 May;82(9):2870-4. doi: 10.1073/pnas.82.9.2870.
3	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.
4	Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX. J Bone Miner Res. 2021 Jun;36(6):1077-1087. doi: 10.1002/jbmr.4277. Epub 2021 Mar 19.
5	A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.Nat Genet. 2005 Aug;37(8):803-5. doi: 10.1038/ng1603. Epub 2005 Jul 17.