Information on IMDDHH
Basic details
Name: Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) | Acronym: IMDDHH
Alt. names:
Gene: NFE2L2 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by
Description
The condition can manifest with immunodeficiency (for which antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial), liver damage, and other features, and medical management (with luteolin and ascorbic acid) has been described as beneficial related to certain parameters, such as liver enzymes and reported frequency of infections. Refs. PMIDs: 29018201
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 | Decreased serum creatinine |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Mild global developmental delay |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Recurrent lower respiratory tract infections |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Failure to thrive |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 5 | Hypohomocysteinemia |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 6 | Skin infections |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 7 | Atrial septal defect |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 8 | Delayed skeletal maturation |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 9 | Headaches |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Hypocystinemia |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 11 | Muscle weakness |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 12 | short stature |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 13 | Bicuspid aortic valve |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 14 | Decreased IgA levels |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 15 | Hypogammaglobulinemia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 16 | Delayed speech and language development |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 17 | Easy fatigability |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 18 | Feeding difficulties |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 19 | Growth delay |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 20 | Hoarse voice |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 21 | Intrauterine growth retardation |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 22 | Tremor |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
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.