Information on PDR
Basic details
Name: Pigmentary disorder, reticulate, with systemic manifestations, X-linked | Acronym: PDR
Alt. names: X-linked reticulate pigmentary disorder | POLA1 deficiency
Gene: POLA1 | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
Males have been described with manifestations including recurrent respiratory infections and failure to thrive due to inflammatory gastroenteritis or colitis, and awareness, and awareness may allow preventative measures and early and aggressive treatments of infections. Refs. PMIDs: 16053905; 27019227; 31006512
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 | Reticular hyperpigmentation |
16 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bronchiectasis |
13 (92.9%) | 0 (0.0%) | 1 (7.1%) |
| 3 | Photophobia |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent pneumonia |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Hypohidrosis |
11 (68.8%) | 0 (0.0%) | 5 (31.3%) |
| 6 | Chronic diarrhea |
9 (64.3%) | 0 (0.0%) | 5 (35.7%) |
| 7 | Colitis |
9 (64.3%) | 0 (0.0%) | 5 (35.7%) |
| 8 | Corneal scarring |
7 (50.0%) | 0 (0.0%) | 7 (50.0%) |
| 9 | Urethral stricture |
5 (35.7%) | 0 (0.0%) | 9 (64.3%) |
| 10 | Clubbing |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 11 | Cutis marmorata |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 12 | Broad eyebrow |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Childhood onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Failure to thrive in infancy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Frontal upsweep of hair |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Global developmental delay |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 17 | Intellectual disability |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
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.