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OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3

Known as: OPTB3, Carbonic anhydrase 2 deficiency, GUIBAUD-VAINSEL SYNDROME 
A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and… 
National Institutes of Health

Related topics

Related topics

6 relations
CA2 geneCarbonic Anhydrase II

Broader (4)

CARBONATE DEHYDRATASEOsteopetrosisRenal tubular acidosisUrea Cycle Disorders, Inborn

Papers overview

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2015
2015
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes… 
2014
2014
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†
Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of… 
2014
2014
Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis
Among the high bone mass disorders, the osteopetroses reflect osteoclast failure that prevents skeletal resorption and turnover… 
2011
2011
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications
SummaryHere we report 41 novel mutations in the TCIRG1 gene that is responsible for the disease in more than 50% of ARO patients… 
Review
2004
Review
2004
In situ ion microprobe 207Pb/206Pb dating of monazite from Precambrian metamorphic suites, Tobacco Root Mountains, Montana
The Precambrian rocks of the Tobacco Root Mountains have been separated into three suites: the Indian Creek Metamorphic Suite… 
2001
2001
Is population bone mineral density variation linked to the marker D11S987 on chromosome 11q12-13?
Our purpose is to test linkage of human chromosome 11q12-13 to BMD variation. Chromosome 11q12-13 has been linked to three BMD… 
1994
1994
Autosomal recessive osteopetrosis.
Osteopetrosis is a genetic disease that is relatively common in Saudi Arabia because of the high rate of consanguineous marriages… 
1992
1992
Autosomal recessive osteopetrosis: bone marrow imaging.
Technetium-99m sulfur colloid scintigraphy was performed prospectively in 12 infants and children with autosomal recessive… 
1990
1990
Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients.
Carbonic anhydrase II (CA II) deficiency has been shown to be the primary defect in the recessively inherited syndrome of… 
1986
1986
Sequences near the 5' long terminal repeat of avian leukosis viruses determine the ability to induce osteopetrosis
Avian leukosis virus (ALV)-induced osteopetrosis is associated with the accumulation of unintegrated viral DNA in osteoblasts… 
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