Details of Disease

Disease Name

Osteogenesis imperfecta type 1

osteogenesis imperfecta with blue sclerae; OI, type 1; osteogenesis imperfecta, type 1; osteogenesis imperfecta tarda; classic non-deforming OI with blue sclerae; osteogenesis imperfecta, type I; Adair-Dighton syndrome; mild osteogenesis imperfecta; non-deforming osteogenesis imperfecta; OI1; OI type 1; osteogenesis imperfecta type 1; Van der Hoeve syndrome; osteogenesis imperfecta type I

Definition

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.|Editor note: we follow ordo and place van der hoeve as exact synonym

Disease Hierarchy

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

DISPEDS3: Osteogenesis imperfecta type 1

Disease Identifiers

MONDO ID

MONDO_0008146

MESH ID

D010013

UMLS CUI

C0023931

OMIM ID

166200

MedGen ID

9799

Orphanet ID

216796

SNOMED CT ID

385482004

General Information of Disease (ID: DISPEDS3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	TTUABC1	Disputed	Genetic Variation	[1]
SPARC	TTBQFM7	Strong	Biomarker	[2]
COL1A2	TTUABC1	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
P3H1	DEW527E	Strong	Biomarker	[4]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
P4HB	OTTYNYPF	Supportive	Autosomal dominant	[5]
SEC24D	OTXR3KC9	Supportive	Autosomal dominant	[6]
CRTAP	OT53H5U6	Strong	Biomarker	[4]
PLS3	OTYBM4PK	Strong	Genetic Variation	[7]
COL1A1	OTI31178	Definitive	Autosomal dominant	[3]
COL1A2	OTY7G382	Definitive	Autosomal dominant	[3]
PLA1A	OT2IXYNX	Definitive	Genetic Variation	[8]
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⏷ Show the Full List of 7 DOT(s)

References

1	COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.Mol Genet Genomic Med. 2019 May;7(5):e619. doi: 10.1002/mgg3.619. Epub 2019 Mar 4.
2	Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility.Bone. 1991;12(4):241-8. doi: 10.1016/8756-3282(91)90070-y.
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	CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799.
5	NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA. Endocr Pract. 2019 Mar;25(3):230-241. doi: 10.4158/EP-2018-0443.
6	Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.
7	PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2.
8	Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.Matrix Biol. 2000 Feb;19(1):1-9. doi: 10.1016/s0945-053x(99)00056-6.