BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15

General Information (adopted from Orphanet):

Synonyms, Signs: BMND15
OSTEOPOROSIS, SUSCEPTIBILITY TO
COMPRESSION FRACTURE, SUSCEPTIBILITY TO
METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613418
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000939) Osteoporosis 129 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Metaphyseal fractures (in homozygotes) 1 / 7739
4
(MedDRA:10010214) Compression fracture 1 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Li et al. (2009) studied a 15-year-old boy with a history of peripheral fractures, in whom x-rays confirmed metaphyseal and compression fractures, all of which resulted from low-impact trauma. He had a normal 25-hydroxyl vitamin D serum concentration. ...
Molecular genetics OMIM Li et al. (2009) analyzed the MIR2861 gene in a brother and sister with a history of peripheral and compression fractures and identified homozygosity for a C-to-G substitution in pre-MIR2861 (613405.0001). The parents, a paternal aunt, and both ...