NIH Rare Diseases
:
53
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. 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.
MalaCards based summary
:
Osteopetrosis, Autosomal Recessive 2, also known as
optb2, is related to
osteopetrosis, autosomal recessive 7 and
autosomal recessive malignant osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is
TNFSF11 (TNF Superfamily Member 11). Affiliated tissues include
bone and
bone marrow, and related phenotypes are
mandibular prognathia and
blindness
Disease Ontology
:
12
An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
UniProtKB/Swiss-Prot
:
75
Osteopetrosis, autosomal recessive 2: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development.
