Osteopetrosis autosomal dominant type 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
OPTA2; Autosomal dominant osteopetrosis type 2; Albers-Schönberg osteopetrosis
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases
Osteopetrosis refers to a group of rare,
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the metacarpal bones||
Abnormality of the long bone of hand
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Death of bone due to decreased blood supply
Recurrent joint dislocations
[ more ]
Increased size of skull
Large head circumference
[ more ]
Lower jaw bone infection
Degenerative joint disease
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|Short distal phalanx of finger||
Short outermost finger bone
|30%-79% of people have these symptoms|
Low number of red blood cells or hemoglobin
Decreased body height
[ more ]
|5%-29% of people have these symptoms|
|Bone marrow hypocellularity||
Bone marrow failure
[ more ]
[ more ]
Too much cerebrospinal fluid in the brain
Low blood calcium levels
|Percent of people who have these symptoms is not available through HPO|
Abnormal shape of pelvic girdle bone
|Abnormality of the vertebral endplates||0005106|
|Elevated serum acid phosphatase||
Acid phosphatase elevated
|Fractures of the long bones||0003084|
Signs and symptoms begin before 15 years of age
Harder, denser, fracture-prone bones
Loss of vision
[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Interferon gamma-1b(Brand name: Actimmune®) Manufactured by InterMune , Inc.
FDA-approved indication: Delaying time to disease progression in patients with severe, malignant osteopetrosis.
National Library of Medicine Drug Information Portal
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other subtypes of osteopetrosis, fluorosis, beryllium, lead and bismuth poisoning, myelofibrosis, Paget's disease (sclerosing form) and malignancies (lymphoma, osteoblastic cancer metastases) (see these terms).
Visit the Orphanet disease page for more information.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- 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.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Osteopetrosis autosomal dominant type 2. Click on the link to view a sample search on this topic.
- Zornitza Stark and Ravi Savarirayan. Osteopetrosis. Orphanet. October, 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781.
- David D. Sherry Frank Pessler. Osteopetroses. Merck Manual. 2016; https://www.merckmanuals.com/home/children-s-health-issues/bone-disorders-in-children/osteopetroses.
- Robert Blank. Osteopetrosis. Medscape Reference. December 17, 2014; https://emedicine.medscape.com/article/123968-overview.