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GENATLAS PHENOTYPE

last update : 23-04-2009

Symbol	OPTB1
Location	11q13.2
Name	osteopetrosis, lethal B1
Corresponding gene	TCIRG1
Main clinical features	characterized by the development of abnormally dense bones due to a failure of osteoclasts to resorb bone, acrocephaly, severe pancytopenia, hepatosplenomegaly, progressive deafness and blindness, and a fatal outcome around 20 years inabsence of bone marrow transplantation, murine osteosclerosis (oc) homolog
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	ear
	eye
Type	disease

Gene product

Name	T cell immune regulator 1

Remark(s)