BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOPOROSIS, SUSCEPTIBILITY TO, INCLUDED
BMND1 HIGH BONE MASS, INCLUDED
HBM, INCLUDED
Number of Symptoms 6
OrphanetNr:
OMIM Id: 601884
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000925) Abnormality of the vertebral column 20 / 7739
2
(HPO:0004563) Increased spinal bone density 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Dense bones with thick cortices 1 / 7739
5
(OMIM) Elevated bone mass 1 / 7739
6
(OMIM) Fracture resistance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Johnson et al. (1997) described a family with very high spinal bone mineral density, the so-called spinal Z(BMD). In this kindred, the spinal Z(BMD) was 5.54 in 12 affected individuals and 0.41 in 16 unaffected individuals. The affected ...
Molecular genetics OMIM In a family with high bone mass linked to chromosome 11q13 (Johnson et al., 1997), Little et al. (2002) identified a mutation in the LRP5 gene (603506.0013). Boyden et al. (2002) identified the same mutation in affected members ...
Population genetics OMIM BMD and fracture rates vary among women of differing ethnicities. Most reports had suggested that BMD is highest in African Americans, lowest in Asians, and intermediate in Caucasians, yet Asians have lower fracture rates than Caucasians. Finkelstein et ...