Rare Hematology News

Disease Profile

Osteoporosis-pseudoglioma syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

Q87.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

OPPG; OPS; Osteogenesis imperfecta ocular form;

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2788

Definition
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

Epidemiology
The estimated prevalence is 1/2 000 000.

Clinical description
Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.

Etiology
The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5).

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures

[ more ]

0002659
Osteoporosis
0000939
30%-79% of people have these symptoms
Angle closure glaucoma
0012109
Congenital blindness
Blindness present at birth
0007875
Corneal opacity
0007957
Crumpled long bones
0006367
Exudative retinopathy
0007898
Exudative vitreoretinopathy
0030490
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Loss of ability to walk
0006957
Low serum calcitriol
0012052
Metaphyseal widening
Broad wide portion of long bone
0003016
Osteopenia
0000938
Retinal detachment
Detached retina
0000541
Severely reduced visual acuity
Marked vision impairment
Severe visual impairment
Severely impaired vision

[ more ]

0001141
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
5%-29% of people have these symptoms
Abnormal femoral neck/head morphology
Abnormal neck or head of thigh bone
0003366
Congenital nystagmus
0006934
Delayed gross motor development
Delayed motor skills
0002194
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Frontal bossing
0002007
Global developmental delay
0001263
Microphthalmia
Abnormally small eyeball
0000568
Short stature
Decreased body height
Small stature

[ more ]

0004322
Visual acuity light perception with projection
0030551
Wormian bones
Extra bones within cranial sutures
0002645
1%-4% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Isosexual precocious puberty
0008236
Moderately reduced visual acuity
Moderate visual impairment
0030515
Preauricular skin tag
0000384
Percent of people who have these symptoms is not available through HPO
Absent anterior chamber of the eye
0008037
Autosomal recessive inheritance
0000007
Barrel-shaped chest
Barrel chest
0001552
Blindness
0000618
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Glioma
0009733
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Iris atrophy
Iris degeneration
0001089
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints

[ more ]

0001382
Kyphoscoliosis
0002751
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Pathologic fracture
Spontaneous fracture
0002756
Phthisis bulbi
0000667
Platyspondyly
Flattened vertebrae
0000926
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Vitreoretinopathy
0007773

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Osteoporosis-pseudoglioma syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteoporosis-pseudoglioma syndrome. Click on the link to view a sample search on this topic.