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Osteoporosis with pseudoglioma(OPPG)

MedGen UID:
98480
Concept ID:
C0432252
Disease or Syndrome
Synonyms: OPPG; Osteogenesis imperfecta ocular form; Osteoporosis Pseudoglioma Syndrome; Pseudoglioma with bone fragility
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Osteoporosis with pseudoglioma (254112001)
 
Gene (location): LRP5 (11q13.2)
OMIM®: 259770
Orphanet: ORPHA2788

Definition

Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.
[from GHR]

Clinical features

Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
Glioma
MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
Barrel-shaped chest
MedGen UID:
120497
Concept ID:
C0264172
Finding
Absent anterior eye chamber
MedGen UID:
82862
Concept ID:
C0271004
Anatomical Abnormality
Phthisis bulbi
MedGen UID:
124382
Concept ID:
C0271007
Finding
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Iris atrophy
MedGen UID:
96095
Concept ID:
C0423319
Disease or Syndrome
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Finding
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Vitreoretinopathy
MedGen UID:
340468
Concept ID:
C1850109
Disease or Syndrome
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteoporosis with pseudoglioma
Follow this link to review classifications for Osteoporosis with pseudoglioma in Orphanet.

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