Osteopetrosis, Autosomal Recessive 1

Alternative Names

  • OPTB1
  • Marble Bones, Autosomal Recessive
  • Albers-Schonberg Disease, Autosomal Recessive
  • Osteopetrosis, Malignant
  • Osteopetrosis, Infantile Malignant 1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Autosomal recessive osteopetrosis (OP) is a rare, lethal disorder in which osteoclasts are absent or nonfunctional, resulting in a bone marrow cavity insufficient to support hematopoiesis.

The TCIRG1 gene, encoding the alpha-3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, is responsible for more than one-half of the osteopetrosis patients.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
259700.1LebanonYes Hepatosplenomegaly; Increased bone mine...NM_006019.3:c.702delHomozygousAutosomal, RecessiveSouraty et al. 2007
259700.2LebanonYes Hepatosplenomegaly; Increased bone miner...NM_006019.3:c.702delHomozygousAutosomal, RecessiveSouraty et al. 2007 Has an older affecte...
259700.3SyriaNo Increased bone mineral density; Optic at...NM_006019.3:c.1421C>AHomozygousAutosomal, RecessiveSouraty et al. 2007

Other Reports


In a 5-year prospective study for newborns at Al Ain Medical District, Al-Gazali et al. (2003) identified one case, born to a consanguineous parents, who had autosomal recessive osteopetrosis. The study exhibited a cohort of 88% Arabs. 


Paulose et al. (1988) described a case of osteopetrosis in a child who had agenesis of all paranasal sinuses as a silent feature of the disease. 


Abdel-Al et al. (1994) diagnosed 19 Arab children (six boys and 13 girls) in ten sibships as having osteopetrosis over a 5-year period in various hospitals in Kuwait. Eighteen patients had an isolated autosomal recessive form. 


In two Palestinian Muslim consanguineous families that lived in the same village, Dudin and Rambaud-Cousson (1993) found seven cases of lethal infantile osteopetrosis.

In a survey of 2000 different Palestinian Arab families Zlotogora (1997)  found a high prevalence of recessive osteopetrosis.

Shalev et al. (2001) used linkage analysis for the prenatal diagnosis of osteopetrosis in Bedouin families at risk. Twelve cases were diagnosed, three fetuses were found to be affected, and one of the pregnancies was terminated. 


Rysavy et al. (2007) described four relatives who presented with fractures and myelodysplatic anemia. 

Saudi Arabia

Al-Rasheed et al. (1998) observed, over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis in two hospitals in Riyadh.

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