U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Taranta A, Migliaccio S, Recchia I, Caniglia M, Luciani M, De Rossi G, Dionisi-Vici C, Pinto RM, Francalanci P, Boldrini R, Lanino E, Dini G, Morreale G, Ralston SH, Villa A, Vezzoni P, Del Principe D, Cassiani F, Palumbo G, Teti A
Am J Pathol 2003 Jan;162(1):57-68. doi: 10.1016/S0002-9440(10)63798-4. PMID: 12507890Free PMC Article
Wilson CJ, Vellodi A
Arch Dis Child 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449. PMID: 11040159Free PMC Article

Recent clinical studies

Etiology

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
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
Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL Jr
Otol Neurotol 2005 Jul;26(4):762-6. doi: 10.1097/01.mao.0000178139.27472.8d. PMID: 16015181
Thompson DA, Kriss A, Taylor D, Russell-Eggitt I, Hodgkins P, Morgan G, Vellodi A, Gerritsen EJ
Neuropediatrics 1998 Jun;29(3):137-44. doi: 10.1055/s-2007-973550. PMID: 9706624

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
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article
Thompson DA, Kriss A, Taylor D, Russell-Eggitt I, Hodgkins P, Morgan G, Vellodi A, Gerritsen EJ
Neuropediatrics 1998 Jun;29(3):137-44. doi: 10.1055/s-2007-973550. PMID: 9706624
Elster AD, Theros EG, Key LL, Chen MY
Radiology 1992 Apr;183(1):137-44. doi: 10.1148/radiology.183.1.1549660. PMID: 1549660

Therapy

Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY
Clin Genet 2015 Jul;88(1):74-9. Epub 2014 Jul 31 doi: 10.1111/cge.12448. PMID: 24989235
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
Fasth A, Porras O
Pediatr Transplant 1999;3 Suppl 1:102-7. doi: 10.1034/j.1399-3046.1999.00063.x. PMID: 10587979
Burt N, Haynes GR, Bailey MK
Anesth Analg 1999 Jun;88(6):1292-7. doi: 10.1097/00000539-199906000-00017. PMID: 10357332
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

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
Ajmal M, Mir A, Wahid S, Khor CC, Foo JN, Siddiqi S, Kauser M, Malik SA, Nasir M
BMC Med Genet 2017 Dec 13;18(1):148. doi: 10.1186/s12881-017-0506-4. PMID: 29237407Free PMC Article
Zhang X, Wei Z, He J, Wang C, Zhang Z
Postgrad Med 2017 Nov;129(8):934-942. Epub 2017 Oct 11 doi: 10.1080/00325481.2017.1386529. PMID: 28975865
Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL Jr
Otol Neurotol 2005 Jul;26(4):762-6. doi: 10.1097/01.mao.0000178139.27472.8d. PMID: 16015181
Thompson DA, Kriss A, Taylor D, Russell-Eggitt I, Hodgkins P, Morgan G, Vellodi A, Gerritsen EJ
Neuropediatrics 1998 Jun;29(3):137-44. doi: 10.1055/s-2007-973550. PMID: 9706624

Clinical prediction guides

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
Ajmal M, Mir A, Wahid S, Khor CC, Foo JN, Siddiqi S, Kauser M, Malik SA, Nasir M
BMC Med Genet 2017 Dec 13;18(1):148. doi: 10.1186/s12881-017-0506-4. PMID: 29237407Free PMC Article
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
Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL Jr
Otol Neurotol 2005 Jul;26(4):762-6. doi: 10.1097/01.mao.0000178139.27472.8d. PMID: 16015181
Elster AD, Theros EG, Key LL, Chen MY
Radiology 1992 Apr;183(1):137-44. doi: 10.1148/radiology.183.1.1549660. PMID: 1549660

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...