Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 27-08-2010

Symbol	HVB2
Location	11q13.2
Name	van Buchem disease, type 2
Corresponding gene	LRP5
Other symbol(s)	VBCH2
Main clinical features	osteosclerosis of the skull and enlarged mandible, clavicles, ribs, and diaphysis of the long bones beginning during puberty and sometimes leading to optic atrophy and perceptive deafness from nerve pressure
Genetic determination	autosomal dominant
Related entries	. including benign and usually asymptomatic form of osteosclerosis associated with torus palatinus (OMIM : 144750)
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	low density lipoprotein receptor-related protein 5

Remark(s)