Information on OPTB7
Basic details
Name: Osteopetrosis, autosomal recessive 7 | Acronym: OPTB7
Alt. names:
Gene: TNFRSF11A | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2008
Last updated on: 2023-02-28 16:41:18 by
Description
In Osteopetrosis, autosomal recessive 7, individuals can present with hypocalcemic seizures, which are responsive to treatment; Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; In Polyostotic osteolytic dysplasia, hereditary expansile, HSCT has been reported as effective, including when performed in late infancy; For Paget disease of bone, medical management (eg, inhibitors of osteoclastic bone resorption) can be beneficial - bisphosphonates are current first line of treatment, and awareness of the risk of related oncologic processes (eg, osteosarcoma) may be beneficial to allow early diagnosis and treatment. Refs. PMIDs: 3346299; 2530018; 9626117; 10615125; 11123042; 18606301; 18328984; 18672105; 19940926; 22271396
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Osteopetrosis |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Progressive visual loss |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Infantile onset |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 4 | Hepatomegaly |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 5 | Nystagmus |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 6 | Decreased IgG levels |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 7 | Growth delay |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 8 | Neonatal onset |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 9 | Splenomegaly |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 10 | Death in infancy |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 11 | Decreased IgA levels |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 12 | Decreased IgM levels |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 13 | Hypocalcemic seizures |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 14 | Death in childhood |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 15 | Femur fracture |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 16 | Generalized hypotonia |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 17 | Hydrocephalus |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 18 | Increased head circumference |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 19 | Dilation of lateral ventricles |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 20 | Multiple rib fractures |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 21 | Proptosis |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.