Information on OPTB8
Basic details
Name: Osteopetrosis, autosomal recessive 8 | Acronym: OPTB8
Alt. names:
Gene: SNX10 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
The condition has been described as manifesting with sequelae of osteopetrosis, including failure to thrive related to upper airway issues, as well as complications affecting multiple organ systems, and successful BMT in early childhood has been described. Refs. PMIDs: 22499339; 23123320
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 | Optic atrophy |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Osteopetrosis |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Visual loss |
7 (87.5%) | 0 (0.0%) | 1 (12.5%) |
| 4 | Anemia |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 5 | Hepatomegaly |
6 (75.0%) | 0 (0.0%) | 2 (25.0%) |
| 6 | Splenomegaly |
6 (75.0%) | 0 (0.0%) | 2 (25.0%) |
| 7 | Childhood onset |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 8 | Macrocephaly |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 9 | Failure to thrive |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 10 | Infantile onset |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 11 | Thrombocytopenia |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 12 | Facial palsy |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 13 | Unilateral microphthalmos |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
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.