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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).
Autosomal recessive inheritance (Orphanet)
 
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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive osteopetrosis

Professional guidelines

PubMed

Osteopetrosis: genetics, treatment and new insights into osteoclast function.
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
Autosomal recessive osteopetrosis: diagnosis, management, and outcome.
Wilson CJ, Vellodi A
Arch Dis Child 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449. PMID: 11040159Free PMC Article
Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation.
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

Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.
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
Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.
Lo Iacono N, Blair HC, Poliani PL, Marrella V, Ficara F, Cassani B, Facchetti F, Fontana E, Guerrini MM, Traggiai E, Schena F, Paulis M, Mantero S, Inforzato A, Valaperta S, Pangrazio A, Crisafulli L, Maina V, Kostenuik P, Vezzoni P, Villa A, Sobacchi C
J Bone Miner Res 2012 Dec;27(12):2501-10. doi: 10.1002/jbmr.1712. PMID: 22836362
Osteopetrosis.
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article
Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse.
Tondelli B, Blair HC, Guerrini M, Patrene KD, Cassani B, Vezzoni P, Lucchini F
Am J Pathol 2009 Mar;174(3):727-35. Epub 2009 Feb 13 doi: 10.2353/ajpath.2009.080688. PMID: 19218349Free PMC Article
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
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

Osteopetrorickets: two contradictory patterns-one unifying diagnosis.
Behr G, Kuhn M, Oved JH, Sulis ML
Skeletal Radiol 2024 Apr;53(4):817-820. Epub 2023 Sep 6 doi: 10.1007/s00256-023-04443-z. PMID: 37672091Free PMC Article
Phenotype-autosomal recessive osteopetrosis.
Pillai NR, Aggarwal A, Orchard P
Bone 2022 Dec;165:116577. Epub 2022 Oct 3 doi: 10.1016/j.bone.2022.116577. PMID: 36195244
CLCN7-related neuropathic infantile osteopetrosis in siblings.
Tachikawa J, Takahashi Y, Miura M, Soeno Y, Tanaka A
Pediatr Int 2021 Oct;63(10):1251-1252. Epub 2021 Jul 14 doi: 10.1111/ped.14594. PMID: 34258831
Osteopetrosis.
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article
Autosomal recessive osteopetrosis: diagnosis, management, and outcome.
Wilson CJ, Vellodi A
Arch Dis Child 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449. PMID: 11040159Free PMC Article

Therapy

Characterization and management of hypercalcemia following transplantation for osteopetrosis.
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
Mild autosomal recessive osteopetrosis: successful treatment with bone marrow transplant.
Othman IS, Ibrahim H, Hii KC, Ong GB, Menon BS
Med J Malaysia 2009 Dec;64(4):325-6. PMID: 20954561
Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report.
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
Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation.
Fasth A, Porras O
Pediatr Transplant 1999;3 Suppl 1:102-7. doi: 10.1034/j.1399-3046.1999.00063.x. PMID: 10587979
Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group.
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

Osteopetrosis in the pediatric patient: what the radiologist needs to know.
McLuckey MN, Imel EA, Forbes-Amrhein MM
Pediatr Radiol 2024 Jun;54(7):1105-1115. Epub 2024 Mar 14 doi: 10.1007/s00247-024-05899-4. PMID: 38483591
CLCN7-related neuropathic infantile osteopetrosis in siblings.
Tachikawa J, Takahashi Y, Miura M, Soeno Y, Tanaka A
Pediatr Int 2021 Oct;63(10):1251-1252. Epub 2021 Jul 14 doi: 10.1111/ped.14594. PMID: 34258831
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
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
Autosomal recessive osteopetrosis: diagnosis, management, and outcome.
Wilson CJ, Vellodi A
Arch Dis Child 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449. PMID: 11040159Free PMC Article
Developmental spectrum of children with congenital osteopetrosis.
Charles JM, Key LL
J Pediatr 1998 Feb;132(2):371-4. doi: 10.1016/s0022-3476(98)70467-6. PMID: 9506663

Clinical prediction guides

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
Jodeh W, Katz AJ, Hart M, Warden SJ, Niziolek P, Alam I, Ing S, Polgreen LE, Imel EA, Econs MJ
J Clin Endocrinol Metab 2024 Jun 17;109(7):1726-1732. doi: 10.1210/clinem/dgae040. PMID: 38261998Free PMC Article
Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.
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
TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.
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
High peripheral blood progenitor cell counts enable autologous backup before stem cell transplantation for malignant infantile osteopetrosis.
Steward CG, Blair A, Moppett J, Clarke E, Virgo P, Lankester A, Burger SR, Sauer MG, Flanagan AM, Pamphilon DH, Orchard PJ
Biol Blood Marrow Transplant 2005 Feb;11(2):115-21. doi: 10.1016/j.bbmt.2004.11.001. PMID: 15682072
Developmental spectrum of children with congenital osteopetrosis.
Charles JM, Key LL
J Pediatr 1998 Feb;132(2):371-4. doi: 10.1016/s0022-3476(98)70467-6. PMID: 9506663

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