Information on CDG2B
Basic details
Name: Congenital disorder of glycosylation, type IIb | Acronym: CDG2B
Alt. names:
Gene: MOGS | 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
At least theoretically, awareness of coagulopathies may be beneficial in terms of medical management, especially in situations such as surgery. Hepatic-metabolized agents should be avoided. Refs. PMIDs: 10788335; 20301507; 24716661
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 | Hand clenching |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Congenital onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased IgA levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Demyelinating peripheral neuropathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | EEG with burst suppression |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Elevated circulating AST levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Generalized edema |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Generalized hypotonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | High palate |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Hypoplastic female external genitalia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Long eyelashes |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Overlapping fingers |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Prominent occiput |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Reduced tissue mannosyl-oligosaccharide glucosidase activity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Retrognathia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Seizures |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Short palpebral fissure |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Thoracic scoliosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Wide nose |
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.