Information on OPTB4
Basic details
Name: Osteopetrosis, autosomal recessive 4 | Acronym: OPTB4
Alt. names:
Gene: CLCN7 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by
Description
In Autosomal recessive osteopetrosis, early diagnosis can allow medical treatment related to calcium homeostasis, including prevention/treatment of hypocalcemic seizures; Transfusions for hematologic manifestations may be necessary; Individuals may benefit from infectious prophylaxis and early and aggressive treatments of infections; HSCT has been described as beneficial; In Autosomal dominant forms of Osteopetrosis, avoidance of high-fracture risk activities can be beneficial, and calcitriol has been reported as beneficial. Refs. PMIDs: 18131787; 13665485; 4871758; 6546410; 3377922; 2268972; 8358946; 10617161; 11741829; 11207362; 12522560; 13130312; 14584882; 17033731; 17164308; 20301306; 23296056; 31155284
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 disc pallor |
11 (91.7%) | 0 (0.0%) | 1 (8.3%) |
| 2 | Increased bone mineral density |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Osteopetrosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Childhood onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Hepatomegaly |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Infantile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Neonatal onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Optic atrophy |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Petechiae |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Splenomegaly |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 12 | Thrombocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.