Osteopetrosis, Autosomal Recessive 6 (OPTB6)

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OMIM 57 611497 Disease Ontology 12 DOID:0110945 Orphanet 59 ORPHA210110 UMLS via Orphanet 74 C1969093 C0432261 ICD10 via Orphanet 34 Q78.2

MedGen 42 C1969093 MeSH 44 D010022 SNOMED-CT via HPO 69 258211005 1926006 367489004 UMLS 73 C1969093

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 6, also known as optb6, is related to osteopetrosis and autosomal recessive malignant osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 6 is PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are osteopetrosis and dense metaphyseal bands

Disease Ontology : ¹² An osteopetrosis characterized by autosomal recessive inheritance of that has material basis in mutation in the PLEKHM1 gene on chromosome 17q21.31.

UniProtKB/Swiss-Prot : ⁷⁵ Osteopetrosis, autosomal recessive 6: 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.

Description from OMIM: 611497

Clinical features from OMIM:

611497

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