Information on SDS2
Basic details
Name: Shwachman-Diamond syndrome 2 | Acronym: SDS2
Alt. names:
Gene: EFL1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by
Description
Medical treatment (eg, pancreatic enzymes, fat-soluble vitamins) can be effective to treat pancreatic exocrine insufficiency; Blood/platelet transfusions may be necessary; Due to neutropenia and infectious risk, prophylactic measures (eg antibiotics), as well as early and aggressive treatment of infections, may be beneficial. Refs. PMIDs: 28331068
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 | Exocrine pancreatic insufficiency |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Global developmental delay |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Diarrhea |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 4 | Failure to thrive |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 5 | Muscular hypotonia |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 6 | Infantile onset |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 7 | Neutropenia |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Anterior rib cupping |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | High palate |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 10 | Hyperechogenic pancreas |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Low-set ears |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 12 | Metaphyseal irregularity |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Microcephaly |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 14 | Normocytic anemia |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 15 | Prolonged partial thromboplastin time |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Prolonged prothrombin time |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Steatorrhea |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Thrombocytopenia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Death in childhood |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 20 | Genu varum |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 21 | High myopia |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 22 | Childhood onset |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 23 | Death in infancy |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 24 | Hepatomegaly |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 25 | Laryngomalacia |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 26 | Recurrent infections |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
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.