Information on OPTB2
Basic details
Name: Osteopetrosis, autosomal recessive 2 | Acronym: OPTB2
Alt. names:
Gene: TNFSF11 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may present early in life with audiologic, neurologic, and ophthalmologic manifestations including hydrocephalus and visual impairment, as well as other findings including hepatosplenomegaly and fractures with poor bone remodeling, and awareness of complications may allow surveillance and prompt treatment; HSCT has been reported as beneficial. Refs. PMIDs: 17632511
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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 | Anemia |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hepatosplenomegaly |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased osteoclast count |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent fractures |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 5 | Hydrocephalus |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 6 | Infantile onset |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 7 | Neonatal onset |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 8 | Nystagmus |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 9 | Blindness |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 10 | Seizures |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 11 | Intellectual disability |
0 (0.0%) | 0 (0.0%) | 6 (99.9%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.