Osteopetrosis autosomal recessive 1
Other Names for this Disease
- Autosomal recessive osteopetrosis type 1
- Osteopetrosis infantile malignant 1
- Marble bones autosomal recessive
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 Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention.Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.
Last updated: 7/20/2016
- Zornitza Stark and Ravi Savarirayan. Osteopetrosis. Orphanet. October, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781.
- David D. Sherry Frank Pessler. Osteopetroses. Merck Manual. 2016; http://www.merckmanuals.com/home/children-s-health-issues/bone-disorders-in-children/osteopetroses.
- Robert Blank. Osteopetrosis. Medscape Reference. December 17, 2014; http://emedicine.medscape.com/article/123968-overview.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Osteopetrosis autosomal recessive 1. Click on the link to view a sample search on this topic.