BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18

General Information (adopted from Orphanet):

Synonyms, Signs: BMND18
OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO
Number of Symptoms 12
OrphanetNr:
OMIM Id: 300910
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000938) Osteopenia 138 / 7739
2
(HPO:0000939) Osteoporosis 129 / 7739
3
(OMIM) Long bone fractures after minor trauma 1 / 7739
4
(HPO:0001423) X-linked dominant inheritance 69 / 7739
5
(OMIM) Rib fractures after coughing (in some patients) 1 / 7739
6
(OMIM) Hypermobility of elbow and knee joints 1 / 7739
7
(MedDRA:10034246) Pelvic fractures 1 / 7739
8
(MedDRA:10061161) Pelvic fracture 1 / 7739
9
(OMIM) Vertebral compression fractures, multiple 1 / 7739
10
(OMIM) Finger fractures after minor trauma 1 / 7739
11
(OMIM) Skull fracture after fall (in some patients) 1 / 7739
12
(OMIM) Multiple fractures after minor trauma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Dijk et al. (2013) studied 5 families with X-linked osteoporosis and osteoporotic fractures. The majority of hemizygous male family members presented with osteoporosis and fractures of the axial and appendicular skeleton developing in childhood, whereas the clinical ...
Molecular genetics OMIM Van Dijk et al. (2013) performed X-linked whole-exome sequencing in 3 affected male patients from a 3-generation family with osteoporosis and fractures, and identified hemizygosity for a 1-bp deletion in the PLS3 gene (300131.0001); Sanger sequencing confirmed that ...