Osteopetrosis autosomal dominant type 1
(Redirected from Osteopetrosis autosomal dominant type 2)
Alternate names[edit | edit source]
OPTA1; Autosomal dominant osteopetrosis type 1
Definition[edit | edit source]
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.
Cause[edit | edit source]
Osteopetrosis may be caused by mutations in at least 10 genes.
Inheritance[edit | edit source]
Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.
Signs and symptoms[edit | edit source]
- 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.
Diagnosis[edit | edit source]
Molecular Genetics Tests includes:
- Targeted variant analysis
- Sequence analysis of the entire coding region
- Deletion/duplication analysis
Treatment[edit | edit source]
- 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.
NIH genetic and rare disease info[edit source]
Osteopetrosis autosomal dominant type 1 is a rare disease.
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