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Autosomal recessive osteopetrosis

MedGen UID:
1385510
Concept ID:
C4272578
Disease or Syndrome
Synonyms: autosomal recessive malignant osteopetrosis; Autosomal recessive malignant osteopetrosis; Autosomal Recessive Osteopetrosis; autosomal recessive osteopetrosis; autosomal recessive osteopetrosis (disease); Infantile malignant osteopetrosis; infantile malignant osteopetrosis; malignant osteopetrosis; OPTB; osteopetrosis (disease), autosomal recessive
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).
 
Monarch Initiative: MONDO:0019026
OMIM® Phenotypic series: PS259700
Orphanet: ORPHA667

Definition

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH
Nat Rev Endocrinol 2013 Sep;9(9):522-36. Epub 2013 Jul 23 doi: 10.1038/nrendo.2013.137. PMID: 23877423
Wilson CJ, Vellodi A
Arch Dis Child 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449. PMID: 11040159Free PMC Article
Fasth A, Porras O
Pediatr Transplant 1999;3 Suppl 1:102-7. doi: 10.1034/j.1399-3046.1999.00063.x. PMID: 10587979

Recent clinical studies

Etiology

Luong LH, Nguyen HD, Trung TN, Minh TMT, Khanh TL, Son TP, Tran TD, Nguyen TT
Am J Med Genet A 2022 Oct;188(10):3096-3099. Epub 2022 Aug 1 doi: 10.1002/ajmg.a.62897. PMID: 35915932
Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L
J Bone Miner Res 2022 Feb;37(2):226-235. Epub 2021 Nov 11 doi: 10.1002/jbmr.4462. PMID: 34668226
Li L, Lv SS, Wang C, Yue H, Zhang ZL
Mol Med Rep 2019 Jun;19(6):5030-5038. Epub 2019 Apr 3 doi: 10.3892/mmr.2019.10123. PMID: 30942407
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article
Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C
Calcif Tissue Int 2009 Jan;84(1):1-12. Epub 2008 Dec 12 doi: 10.1007/s00223-008-9196-4. PMID: 19082854

Diagnosis

Pillai NR, Aggarwal A, Orchard P
Bone 2022 Dec;165:116577. Epub 2022 Oct 3 doi: 10.1016/j.bone.2022.116577. PMID: 36195244
Dudiki T, Nascimento DW, Childs LS, Kareti S, Androjna C, Zhevlakova I, Byzova TV
Bone 2022 Jul;160:116397. Epub 2022 Mar 25 doi: 10.1016/j.bone.2022.116397. PMID: 35342016Free PMC Article
Liang H, Li N, Yao RE, Yu T, Ding L, Chen J, Wang J
Mol Genet Genomic Med 2021 Nov;9(11):e1815. Epub 2021 Sep 21 doi: 10.1002/mgg3.1815. PMID: 34545712Free PMC Article
Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH
Nat Rev Endocrinol 2013 Sep;9(9):522-36. Epub 2013 Jul 23 doi: 10.1038/nrendo.2013.137. PMID: 23877423
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Therapy

Martinez C, Polgreen LE, DeFor TE, Kivisto T, Petryk A, Tolar J, Orchard PJ
Bone Marrow Transplant 2010 May;45(5):939-44. Epub 2009 Oct 5 doi: 10.1038/bmt.2009.277. PMID: 19802031Free PMC Article
Othman IS, Ibrahim H, Hii KC, Ong GB, Menon BS
Med J Malaysia 2009 Dec;64(4):325-6. PMID: 20954561
Driessen GJ, Gerritsen EJ, Fischer A, Fasth A, Hop WC, Veys P, Porta F, Cant A, Steward CG, Vossen JM, Uckan D, Friedrich W
Bone Marrow Transplant 2003 Oct;32(7):657-63. doi: 10.1038/sj.bmt.1704194. PMID: 13130312
Fasth A, Porras O
Pediatr Transplant 1999;3 Suppl 1:102-7. doi: 10.1034/j.1399-3046.1999.00063.x. PMID: 10587979
Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F
J Pediatr 1994 Dec;125(6 Pt 1):896-902. doi: 10.1016/s0022-3476(05)82004-9. PMID: 7996361

Prognosis

Luong LH, Nguyen HD, Trung TN, Minh TMT, Khanh TL, Son TP, Tran TD, Nguyen TT
Am J Med Genet A 2022 Oct;188(10):3096-3099. Epub 2022 Aug 1 doi: 10.1002/ajmg.a.62897. PMID: 35915932
Liu C, Ajmal M, Akram Z, Ghafoor T, Farhan M, Shafique S, Wahid S, Bano S, Xiao J, Satti HS, Zhang F, Khan TN
BMC Med Genomics 2021 Nov 9;14(1):264. doi: 10.1186/s12920-021-01117-4. PMID: 34753502Free PMC Article
Lee A, Cortez S, Yang P, Aum D, Singh P, Gooch C, Smyth M
Childs Nerv Syst 2021 Dec;37(12):3695-3703. Epub 2021 Sep 14 doi: 10.1007/s00381-021-05345-y. PMID: 34519872
Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C
Calcif Tissue Int 2009 Jan;84(1):1-12. Epub 2008 Dec 12 doi: 10.1007/s00223-008-9196-4. PMID: 19082854
Wilson CJ, Vellodi A
Arch Dis Child 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449. PMID: 11040159Free PMC Article

Clinical prediction guides

Hofstaetter JG, Atkins GJ, Kato H, Kogawa M, Blouin S, Misof BM, Roschger P, Evdokiou A, Yang D, Solomon LB, Findlay DM, Ito N
Calcif Tissue Int 2022 Oct;111(4):430-444. Epub 2022 May 26 doi: 10.1007/s00223-022-00988-8. PMID: 35618777Free PMC Article
Li L, Lv SS, Wang C, Yue H, Zhang ZL
Mol Med Rep 2019 Jun;19(6):5030-5038. Epub 2019 Apr 3 doi: 10.3892/mmr.2019.10123. PMID: 30942407
Koçak G, Güzel BN, Mıhçı E, Küpesiz OA, Yalçın K, Manguoğlu AE
Gene 2019 Jun 20;702:83-88. Epub 2019 Mar 19 doi: 10.1016/j.gene.2019.02.088. PMID: 30898715
Zhang Y, Ji D, Li L, Yang S, Zhang H, Duan X
Theranostics 2019;9(5):1387-1400. Epub 2019 Feb 20 doi: 10.7150/thno.29761. PMID: 30867839Free PMC Article
Tfifha M, Gaha M, Gamaoun W, Chemli J, Mabrouk S, Hassayoun S, Zouari N, Jemni H, Abroug S
Turk J Pediatr 2017;59(4):452-457. doi: 10.24953/turkjped.2017.04.012. PMID: 29624226

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