Osteopetrosis, Autosomal Recessive 6 (OPTB6)

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Disease Ontology 12 DOID:0110945 OMIM 56 611497 OMIM Phenotypic Series 56 PS259700 MeSH 43 D010022 ICD10 via Orphanet 33 Q78.2

UMLS via Orphanet 72 C0432261 C1969093 Orphanet 58 ORPHA210110 MedGen 41 C1969093 SNOMED-CT via HPO 68 111253001 134291007 161891005 165397008 1926006 246635007 258211005 271737000 367489004 36760000 397540003 422775003 47944004 5468008 60168000 707598004 7973008 more UMLS 71 C1969093

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 6, also known as autosomal recessive osteopetrosis 6, is related to osteopetrosis and pycnodysostosis. An important gene associated with Osteopetrosis, Autosomal Recessive 6 is PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Interferon-gamma and interferons have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are back pain and recurrent fractures

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 : ⁷³ 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.

More information from OMIM: 611497 PS259700

Clinical features from OMIM:

611497

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