ORPHA:2788
Osteoporosis-pseudoglioma syndrome
Synonyms: OPPG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteoporosis-pseudoglioma syndrome | OPPG |
| fr | Syndrome d'ostéoporose-pseudogliome | = en |
| de | Osteoporose-Pseudoglioma-Syndrom | = en |
| es | Síndrome de osteoporosis-pseudoglioma | = en |
| it | Osteoporosi - pseudoglioma | |
| nl | Osteoporose - pseudoglioom-syndroom | = en |
| pt | Síndrome osteoporose-pseudoglioma | = en |
| pl | Osteoporoza - pseudoglioma | Oczna postać wrodzonej łamliwości kości · OPPG |
| cs | Syndrom zahrnující osteoporózu a pseudogliom | OPPG · Okulární forma osteogenesis imperfecta |
| uk | Синдром остеопорозу-псевдогліоми | Очна форма недосконалого остеогенезу · OPPG |
| zh | 骨质疏松症-假神经胶质瘤综合征 | 眼型成骨不全 |
| tr | Osteoporoz-psödoglioma sendromu | OPPG · Osteogenezis imperfektanın oküler formu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259770 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0009820 | E | validated | |
| MeSH | C536063 | E | validated | |
| UMLS | C0432252 | E | validated | |
| GARD | 4160 | E | validated | |
| MedDRA | 10052452 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRP5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 21407258[PMID]_16679074[PMID]_16252235[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2019-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0000939 | Osteoporosis | |
| Frequent (79-30%) | ||
| HP:0040069 | Abnormal lower limb bone morphology | |
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0012109 | Angle closure glaucoma | |
| HP:0007875 | Congenital blindness | |
| HP:0007957 | Corneal opacity | |
| HP:0006367 | Crumpled long bones | |
| HP:0007898 | Exudative retinopathy | |
| HP:0030490 | Exudative vitreoretinopathy | |
| HP:0008947 | Floppy infant | |
| HP:0001382 | Joint hypermobility | |
| HP:0002505 | Loss of ambulation | |
| HP:0012052 | Low serum calcitriol | |
| HP:0003016 | Metaphyseal widening | |
| HP:0000938 | Osteopenia | |
| HP:0000541 | Retinal detachment | |
| HP:0001141 | Severely reduced visual acuity | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003366 | Abnormality of the femoral neck or head region | |
| HP:0006934 | Congenital nystagmus | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0000568 | Microphthalmia | |
| HP:0004322 | Short stature | |
| HP:0030551 | Visual acuity light perception with projection | |
| HP:0002645 | Wormian bones | |
| Very rare (<4-1%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000592 | Blue sclerae | |
| HP:0008236 | Isosexual precocious puberty | |
| HP:0030515 | Moderately reduced visual acuity | |
| HP:0000384 | Preauricular skin tag | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30499050[PMID]_28145787[PMID]_27245540[PMID]_3698335[PMID]_3955857[PMID]_4028503[PMID]_1025282[PMID]_1261071[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2788
- This record as JSON: /data/d/2788.json