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GENATLAS PHENOTYPE

last update : 23-04-2009

Symbol	OPTA2
Location	16p13.3
Name	osteopetrosis, type II
Other name(s)	Albers-Schonberg disease marble bones, autosomal dominant osteosclerosis fragilis generalisata
Corresponding gene	CLCN7
Other symbol(s)	OPTR2 , ADO2
Main clinical features	or severe infantile autosomal recessive (OMIM 259700 ) characterized by the development of abnormally dense bones due to a failure of osteoclasts to resorb bone, severe anemia, hepatosplenomegaly, progressive deafness and blindness and a fatal outcome
Genetic determination	autosomal dominant
Related entries	. including intermediate forms (IARO) with prognathism, genu valgum, hepatosplenomegaly and tendency to fractures
Function/system disorder	osteo-articular
	ear
	eye
Type	disease

Gene product

Name	chloride channel 7 dominant negative mutations in heterozygotes, loss of function in affected homozygotes

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)