Information on KIND1
Basic details
Name: Kindler syndrome | Acronym: KIND1
Alt. names:
Gene: FERMT1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2003
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have an increased risk of squamous cell carcinoma and surveillance for premalignant keratoses/early malignancy may allow early diagnosis and treatment. Refs. PMIDs: 13149722; 8910840; 9301588; 10809978; 12472544; 12668616; 12789646; 17460733; 17854379; 17916195; 17989907; 18410424; 18835760; 19292718; 19945624; 21336475; 21936020
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 | Acral blistering |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Dermal atrophy |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Poikiloderma |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Telangiectasia of the skin |
9 (81.8%) | 0 (0.0%) | 2 (18.2%) |
| 5 | Cutaneous photosensitivity |
8 (72.7%) | 0 (0.0%) | 3 (27.3%) |
| 6 | Gingivitis |
8 (72.7%) | 0 (0.0%) | 3 (27.3%) |
| 7 | Oral leukoplakia |
8 (72.7%) | 0 (0.0%) | 3 (27.3%) |
| 8 | Dysphagia |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 9 | Carious teeth |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 10 | Palmoplantar hyperkeratosis |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 11 | Urethral stenosis |
4 (18.2%) | 0 (0.0%) | 18 (81.8%) |
| 12 | Reduced epidermal kindlin-1 expression |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Anal stenosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 14 | Esophageal stenosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 15 | Phimosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
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.