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Autosomal Recessive Osteopetrosis OMIM

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259700

Description: #259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE Alternative titles; OPTB1 MARBLE BONES, AUTOSOMAL RECESSIVE ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE Gene map locus 16p13, 11q13.4-q13.5, 6q21 a subset of autosomal recessive osteopetrosis is caused by mutation in the TCIRG1 subunit (604592) of the vacuolar proton pump. Autosomal recessive infantile malignant osteopetrosis can also result from mutations in the CLCN7 gene (602727). Mutation has also been detected in the human homolog of the mouse 'grey-lethal' gene (GL; 607649), also known as osteopetrosis-associated transmembrane protein-1 (OSTM1). The features are macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life. Deafness and blindness are generally thought to represent effects of pressure on nerves. (Keith (1968) presented evidence he interpreted as indicating that primary retinal atrophy, not optic atrophy from nerve pressure, occurs in osteopetrosis.) The anemia is caused by encroachment of bone on marrow, resulting in obliteration, and the hepatosplenomegaly is caused by compensatory extramedullary hematopoiesis. The condition results from defective resorption of immature bone. Prenatal diagnosis is possible by x-ray. Enell and Pehrson (1958) described 2 sibs and a cousin affected with the early severe form in a highly inbred kindred. In 2 Palestinian Muslim families that lived in the same village, Dudin and Rambaud-Cousson (1993) found 7 cases of lethal infantile osteopetrosis. In 2 of the 7 persons, short-segment Hirschsprung disease (142623), a probably independent disorder, was also present. An autosomal dominant form of osteopetrosis is more benign (166600). Osteosclerosis also occurs in pycnodysostosis (265800), in van Buchem disease (239100), and in sclerosteosis (269500).

Type: Reference Material
Author/Contact: Not available
Institution: Online Mendelian Inheritance in Man
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Language: English

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Added: Sun Dec 17 2006