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autosomal recessive osteopetrosis 8

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.
Uniprot Description 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. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired.
Disease Ontology Description An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
Mondo Term and Equivalent IDs
MONDO:0014040:  autosomal recessive osteopetrosis 8
NCIT:C150556: 
UMLS:C3554478: