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Osteogenesis imperfecta(OI)

MedGen UID:
45246
Concept ID:
C0029434
Disease or Syndrome
Synonyms: COL1A1/2-Related Osteogenesis Imperfecta; OI
SNOMED CT: Osteogenesis imperfecta (78314001); Osteopsathyrosis (78314001); Fragilitas ossium (78314001); Brittle bone syndrome (78314001); Brittle bone disease (78314001); OI - Osteogenesis imperfecta (78314001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Genes (locations): COL1A1 (17q21.33); COL1A2 (7q21.3)
Related genes: IFITM5, SP7, CREB3L1, CCDC134, P3H1, FKBP10, TENT5A, TMEM38B, MBTPS2, PHLDB1, MESD, KDELR2, CRTAP, WNT1, SPARC, PPIB, SERPINF1, SERPINH1, BMP1
 
Monarch Initiative: MONDO:0019019
OMIM®: 120150
OMIM® Phenotypic series: PS166200
Orphanet: ORPHA666

Disease characteristics

Excerpted from the GeneReview: COL1A1/2 Osteogenesis Imperfecta
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV). [from GeneReviews]
Authors:
Robert D Steiner  |  Donald Basel   view full author information

Additional description

From MedlinePlus Genetics
Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.

The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.

There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.  https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta

Term Hierarchy

Follow this link to review classifications for Osteogenesis imperfecta in Orphanet.

Professional guidelines

PubMed

Galindo-Zavala R, Bou-Torrent R, Magallares-López B, Mir-Perelló C, Palmou-Fontana N, Sevilla-Pérez B, Medrano-San Ildefonso M, González-Fernández MI, Román-Pascual A, Alcañiz-Rodríguez P, Nieto-Gonzalez JC, López-Corbeto M, Graña-Gil J
Pediatr Rheumatol Online J 2020 Feb 24;18(1):20. doi: 10.1186/s12969-020-0411-9. PMID: 32093703Free PMC Article
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Palomo T, Vilaça T, Lazaretti-Castro M
Curr Opin Endocrinol Diabetes Obes 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. PMID: 28863000

Curated

Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)

Recent clinical studies

Etiology

Liu W, Lee B, Nagamani SCS, Nicol L, Rauch F, Rush ET, Sutton VR, Orwoll E
J Clin Endocrinol Metab 2023 Jun 16;108(7):1787-1796. doi: 10.1210/clinem/dgad035. PMID: 36658750Free PMC Article
Botor M, Fus-Kujawa A, Uroczynska M, Stepien KL, Galicka A, Gawron K, Sieron AL
Biomolecules 2021 Oct 10;11(10) doi: 10.3390/biom11101493. PMID: 34680126Free PMC Article
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. PMID: 24715559Free PMC Article

Diagnosis

Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T
Medicina (Kaunas) 2021 May 10;57(5) doi: 10.3390/medicina57050464. PMID: 34068551Free PMC Article
Marom R, Rabenhorst BM, Morello R
Eur J Endocrinol 2020 Oct;183(4):R95-R106. doi: 10.1530/EJE-20-0299. PMID: 32621590Free PMC Article
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Palomo T, Vilaça T, Lazaretti-Castro M
Curr Opin Endocrinol Diabetes Obes 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. PMID: 28863000
Rauch F, Glorieux FH
Lancet 2004 Apr 24;363(9418):1377-85. doi: 10.1016/S0140-6736(04)16051-0. PMID: 15110498

Therapy

Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T
Medicina (Kaunas) 2021 May 10;57(5) doi: 10.3390/medicina57050464. PMID: 34068551Free PMC Article
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Palomo T, Vilaça T, Lazaretti-Castro M
Curr Opin Endocrinol Diabetes Obes 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. PMID: 28863000
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article

Prognosis

Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T
Medicina (Kaunas) 2021 May 10;57(5) doi: 10.3390/medicina57050464. PMID: 34068551Free PMC Article
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article
Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A
Eur J Hum Genet 2015 Aug;23(8):1042-50. Epub 2015 May 6 doi: 10.1038/ejhg.2015.81. PMID: 25944380Free PMC Article
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. PMID: 24715559Free PMC Article

Clinical prediction guides

Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T
Medicina (Kaunas) 2021 May 10;57(5) doi: 10.3390/medicina57050464. PMID: 34068551Free PMC Article
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article

Recent systematic reviews

Rapoport M, Bober MB, Raggio C, Wekre LL, Rauch F, Westerheim I, Hart T, van Welzenis T, Mistry A, Clancy J, Booth L, Prince S, Semler O
Orphanet J Rare Dis 2023 Feb 22;18(1):34. doi: 10.1186/s13023-023-02627-3. PMID: 36814274Free PMC Article
Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS
Am J Obstet Gynecol 2023 Apr;228(4):409-417.e4. Epub 2022 Oct 7 doi: 10.1016/j.ajog.2022.09.045. PMID: 36209938
Oelerich O, Kleinheinz J, Bohner L, Wiesmüller V, Hanisch M
Int J Environ Res Public Health 2022 Jan 29;19(3) doi: 10.3390/ijerph19031563. PMID: 35162583Free PMC Article
Prado HV, Teixeira SA, Rabello F, Vargas-Ferreira F, Borges-Oliveira AC, Abreu LG
Oral Dis 2022 Mar;28(2):314-325. Epub 2020 Nov 22 doi: 10.1111/odi.13715. PMID: 33222339
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article

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    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • Orphanet, 2008
      Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)

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