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GENATLAS PHENOTYPE

last update : 16/06/2006

Symbol	CA2
Location	8q21.2
Name	osteopetrosis with renal tubular acidosis and cerebral calcifications
Other name(s)	Guibaud-Vainsel syndrome Marble brain disease
Corresponding gene	CA2
Main clinical features	short stature, mental retardation, dental malocclusion, fractures and visual impairment from optic nerve compression, mild anemia in infancy improved later and radiographic features of osteopetrosis improved some at puberty with serum acid phosphatase elevated and mild tubular acidosis
Genetic determination	autosomal recessive
Function/system disorder	connective tissue
Type	disease

Gene product

Name	carbonic anhydrase II

Remark(s)