Information on Transcobalamin II deficiency
Basic details
Name: Transcobalamin II deficiency | Acronym:
Alt. names:
Gene: TCN2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1994
Last updated on: 2023-02-28 16:41:18 by
Description
The condition can include neurocognitive impairment, hematologic anomalies (eg, anemia, panyctopenia), susceptibility to recurrent and severe infections, and gastrointestinal sequelae, and cobalamin treatment can result in prevention and/or clinical improvement, including related to developmental parameters; Awareness of immunodeficiency may allow prompt treatment of infections. Refs. PMIDs: 5096637; 4138209; 128427; 3143215; 309761; 1743216; 7849710; 19373259
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 | Failure to thrive |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Methylmalonic aciduria |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Infantile onset |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 4 | Muscular hypotonia |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 5 | Pancytopenia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Vomiting |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 7 | Anemia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 8 | Diarrhea |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Erythroid hypoplasia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Hyperhomocystinemia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 12 | Irritability |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Macrocytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Megaloblastic bone marrow |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Neonatal onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Abnormal blood folate concentration |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 17 | Abnormal vitamin B12 level |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
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.