Osteopetrosis, Autosomal Recessive 2 (OPTB2)

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Disease Ontology 12 DOID:0110943 OMIM 56 259710 OMIM Phenotypic Series 56 PS259700 MeSH 43 D010022

MedGen 41 C1850126 SNOMED-CT via HPO 68 109504005 109695005 124958002 127034005 134291007 165397008 1926006 22810007 258211005 271737000 280816001 299330008 302215000 318761000119105 34643004 367489004 36760000 415116008 42952007 5468008 57650002 65956007 76976005 80967001 95666008 more UMLS 71 C1850126

NIH Rare Diseases : ⁵² 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 autosomal recessive osteopetrosis 2, is related to osteopetrosis, autosomal recessive 7 and bone resorption disease. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is TNFSF11 (TNF Superfamily Member 11), and among its related pathways/superpathways are Ion channel transport and RANK Signaling in Osteoclasts. Affiliated tissues include bone and bone marrow, and related phenotypes are mandibular prognathia and carious teeth

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 : ⁷³ 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.

More information from OMIM: 259710 PS259700

Clinical features from OMIM:

259710

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 2

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 2.