KEGG DISEASE: Osteogenesis imperfecta

DISEASE: Osteogenesis imperfecta

Entry

H00506                      Disease

Name

Osteogenesis imperfecta

Subgroup

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome [DS:H02724]

Description

Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with OI. Mutations in the other genes have been recently identified.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00506  Osteogenesis imperfecta
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00506  Osteogenesis imperfecta
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00506  Osteogenesis imperfecta

Pathway

hsa04310

Wnt signaling pathway

hsa04820

Cytoskeleton in muscle cells

Network

nt06505 WNT signaling
nt06539 Cytoskeleton in muscle cells

Gene

(OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236]
(OI2/3/4) COL1A2 [HSA:1278] [KO:K06236]
(OI5) IFITM5 [HSA:387733] [KO:K06566]
(OI6) SERPINF1 [HSA:5176] [KO:K19614]
(OI7) CRTAP [HSA:10491] [KO:K19606]
(OI8) P3H1 [HSA:64175] [KO:K08134]
(OI9) PPIB [HSA:5479] [KO:K03768]
(OI10) SERPINH1 [HSA:871] [KO:K09501]
(OI11) FKBP10 [HSA:60681] [KO:K09575]
(OI12) SP7 [HSA:121340] [KO:K09197]
(OI13) BMP1 [HSA:649] [KO:K05502]
(OI14) TMEM38B [HSA:55151] [KO:K24013]
(OI15) WNT1 [HSA:7471] [KO:K03209]
(OI16) CREB3L1 [HSA:90993] [KO:K09048]
(OI17) SPARC [HSA:6678] [KO:K24262]
(OI18) TENT5A [HSA:55603] [KO:K23033]
(OI19) MBTPS2 [HSA:51360] [KO:K07765]
(OI20) MESD [HSA:23184] [KO:K25366]
(OI21) KDELR2 [HSA:11014] [KO:K10949]
(OI22) CCDC134 [HSA:79879] [KO:K25417]
(OI23) PHLDB1 [HSA:23187] [KO:K23794]

Other DBs

ICD-11:

LD24.K0

ICD-10:

Q78.0

MeSH:

D010013

OMIM:

166200 166210 259420 166220 610967 613982 610682 610915 259440 613848 610968 613849 614856 615066 615220 616229 616507 617952 301014 618644 619131 619795 620639

Reference

PMID:20855225

Authors

Michou L, Brown JP

Title

Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.

Journal

Joint Bone Spine 78:252-8 (2011)
DOI:10.1016/j.jbspin.2010.07.010

Reference

PMID:19878741

Authors

Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM

Title

Classification of Osteogenesis Imperfecta revisited.

Journal

Eur J Med Genet 53:1-5 (2010)
DOI:10.1016/j.ejmg.2009.10.007

Reference

PMID:22863190 (OI5)

Authors

Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW

Title

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Journal

Am J Hum Genet 91:343-8 (2012)
DOI:10.1016/j.ajhg.2012.06.005

Reference

PMID:21353196 (OI6)

Authors

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C

Title

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Journal

Am J Hum Genet 88:362-71 (2011)
DOI:10.1016/j.ajhg.2011.01.015

Reference

PMID:17055431 (OI7)

Authors

Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B

Title

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

Journal

Cell 127:291-304 (2006)
DOI:10.1016/j.cell.2006.08.039

Reference

PMID:17277775 (OI8)

Authors

Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC

Title

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Journal

Nat Genet 39:359-65 (2007)
DOI:10.1038/ng1968

Reference

PMID:19781681 (OI9)

Authors

van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Hogler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G

Title

PPIB mutations cause severe osteogenesis imperfecta.

Journal

Am J Hum Genet 85:521-7 (2009)
DOI:10.1016/j.ajhg.2009.09.001

Reference

PMID:20188343 (OI10)

Authors

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH

Title

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

Journal

Am J Hum Genet 86:389-98 (2010)
DOI:10.1016/j.ajhg.2010.01.034

Reference

PMID:22718341 (OI11)

Authors

Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC

Title

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Journal

Hum Mutat 33:1589-98 (2012)
DOI:10.1002/humu.22139

Reference

PMID:20579626 (OI12)

Authors

Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, Martinez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL

Title

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

Journal

Am J Hum Genet 87:110-4 (2010)
DOI:10.1016/j.ajhg.2010.05.016

Reference

PMID:22482805 (OI13)

Authors

Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmuller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schonau E, Wirth R, Hammerschmidt M, Nurnberg P, Wollnik B, Carney TJ

Title

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.

Journal

Am J Hum Genet 90:661-74 (2012)
DOI:10.1016/j.ajhg.2012.02.026

Reference

PMID:23316006 (OI14)

Authors

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS

Title

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Journal

Hum Mutat 34:582-6 (2013)
DOI:10.1002/humu.22274

Reference

PMID:23434763 (OI15)

Authors

Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F

Title

Mutations in WNT1 are a cause of osteogenesis imperfecta.

Journal

J Med Genet 50:345-8 (2013)
DOI:10.1136/jmedgenet-2013-101567

Reference

PMID:28817112 (OI16)

Authors

Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH

Title

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Journal

Genet Med 20:411-419 (2018)
DOI:10.1038/gim.2017.115

Reference

PMID:26027498 (OI17)

Authors

Mendoza-Londono R, Fahiminiya S, Majewski J, Tetreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bachinger HP, Rauch F

Title

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

Journal

Am J Hum Genet 96:979-85 (2015)
DOI:10.1016/j.ajhg.2015.04.021

Reference

PMID:29358272 (OI18)

Authors

Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V

Title

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Journal

J Med Genet 55:278-284 (2018)
DOI:10.1136/jmedgenet-2017-104999

Reference

PMID:27380894 (OI19)

Authors

Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Rothlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V

Title

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Journal

Nat Commun 7:11920 (2016)
DOI:10.1038/ncomms11920

Reference

PMID:31564437 (OI20)

Authors

Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmuller J, Nurnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C

Title

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Journal

Am J Hum Genet 105:836-843 (2019)
DOI:10.1016/j.ajhg.2019.08.008

Reference

PMID:33053334 (OI21)

Authors

van Dijk FS, Semler O, Etich J, Kohler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nuchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Morgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D

Title

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

Journal

Am J Hum Genet 107:989-999 (2020)
DOI:10.1016/j.ajhg.2020.09.009

Reference

PMID:32181939 (OI22)

Authors

Dubail J, Brunelle P, Baujat G, Huber C, Doyard M, Michot C, Chavassieux P, Khairouni A, Topouchian V, Monnot S, Koumakis E, Cormier-Daire V

Title

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

Journal

J Bone Miner Res 35:1470-1480 (2020)
DOI:10.1002/jbmr.4011

Reference

PMID:36543534 (OI23)

Authors

Tuysuz B, Uludag Alkaya D, Geyik F, Alaylioglu M, Kasap B, Kurugoglu S, Akman YE, Vural M, Bilguvar K

Title

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.

Journal

J Med Genet 60:819-826 (2023)
DOI:10.1136/jmg-2022-108763

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Disease (23)   
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Gene (41)   
   KEGG ORTHOLOGY (20)   
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