Osteoporosis - pseudoglioma

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOGENESIS IMPERFECTA, OCULAR FORM
OPS
OPPG
Ocular form of osteogenesis imperfecta
Number of Symptoms 45
OrphanetNr: 2788
OMIM Id: 259770
ICD-10: Q87.5
UMLs: C0432252
MeSH: C536063
MedDRA: 10052452
Snomed: 254112001

Prevalence, inheritance and age of onset:

Prevalence: 0.05 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital vitreoretinal dysplasia
 -Rare eye disease
 -Rare genetic disease
Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0002162) Low posterior hairline Occasional [Orphanet] 88 / 7739
4
 (HPO:0000568) Microphthalmia 183 / 7739
5
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
6
 (HPO:0000615) Abnormality of the pupil Frequent [Orphanet] 39 / 7739
7
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
8
 (HPO:0001089) Iris atrophy 8 / 7739
9
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
10
 (HPO:0000667) Phthisis bulbi 4 / 7739
11
 (HPO:0007773) Vitreoretinopathy 1 / 7739
12
 (HPO:0008037) Absent anterior eye chamber 1 / 7739
13
 (HPO:0000618) Blindness 124 / 7739
14
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
15
 (HPO:0009733) Glioma 8 / 7739
16
 (HPO:0001256) Intellectual disability, mild 141 / 7739
17
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
18
 (HPO:0000926) Platyspondyly 150 / 7739
19
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
20
 (HPO:0002756) Pathologic fracture 30 / 7739
21
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
22
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
23
 (HPO:0003016) Metaphyseal widening 41 / 7739
24
 (HPO:0002751) Kyphoscoliosis 131 / 7739
25
 (HPO:0000939) Osteoporosis 129 / 7739
26
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
27
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
28
 (HPO:0001552) Barrel-shaped chest 31 / 7739
29
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
30
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
31
 (HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
32
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
33
 (HPO:0001629) Ventricular septal defect 316 / 7739
34
 (HPO:0001324) Muscle weakness 859 / 7739
35
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
36
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
37
 (HPO:0010547) Muscle flaccidity 466 / 7739
38
 (OMIM) Intraocular calcification 1 / 7739
39
 (OMIM) Narrow diaphyses 1 / 7739
40
 (OMIM) Pseudoglioma 1 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
42
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
43
 (OMIM) Long bone deformities 2 / 7739
44
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
45
 (OMIM) Normal intelligence in most cases 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bianchine et al. (1972) described 3 families. One of the patients, who had earlier been reported by Bianchine and Murdoch (1969), had had many fractures, suggesting osteogenesis imperfecta. In addition, at the age of a few weeks, presumed ...
Molecular genetics OMIM Gong et al. (2001) showed that LRP5 affects bone mass accrual during growth and identified homozygous mutations in the LRP5 gene that cause OPPG (see, e.g., 603506.0001-603506.0012). They found that obligate carriers of mutant LRP5 genes had reduced ...
Population genetics OMIM From a review of published cases, Frontali et al. (1985) suggested that OPS may be more frequent in Mediterranean countries.