Information on GS2
Basic details
Name: Griscelli syndrome, type 2 | Acronym: GS2
Alt. names:
Gene: RAB27A | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2000
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections can be beneficial; Surveillance for complications such as hemophagocytic lymphohistiocytosis to allow early medical treatment (with chemo-immunotherapy) may be beneficial in order to allow prompt medical treatment; HSCT has been described. Refs. PMIDs: 707528; 7996360; 10835631; 12058346; 15452859; 17151879; 18350256; 18350256; 18397837; 18489042; 19030707; 19270433; 19953648; 20370853; 20591709; 21314004; 22111599; 23403622
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 | Hemophagocytosis |
16 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Melanin pigment aggregation in hair shafts |
16 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Silver-gray hair |
16 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hepatosplenomegaly |
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.