Information on HKLLS1
Basic details
Name: Hennekam lymphangiectasia-lymphedema syndrome | Acronym: HKLLS1
Alt. names: Hennekam syndrome
Gene: CCBE1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-05-17 17:25:50 by
Description
The condition can include manifestations such as protein-losing enteropathy (which may be refractory), as well as features for which treatment can be beneficial, such as infectious sequelae, for which early and aggressive treatment may be beneficial; Individuals have been described with endocrine manifestations such as hypothyroidism and growth hormone deficiency, and awareness may allow prompt recognition and treatment. Refs. PMIDs: 2624276; 1897580; 8465855; 7645602; 10925377; 12124738; 12376947; 14564208; 12794699; 19935664; 19911200; 22239599
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 | Depressed nasal bridge |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Flat face |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hypertelorism |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Intestinal lymphangiectasia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Lymphoedema |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Pulmonary lymphangiectasia |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 7 | Pleural lymphangiectasia |
4 (57.1%) | 0 (0.0%) | 3 (42.9%) |
| 8 | Delayed gross motor development |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 9 | Glaucoma |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 10 | Global developmental delay |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 11 | Nonimmune hydrops fetalis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 12 | Ventricular septal defect |
1 (14.3%) | 0 (0.0%) | 6 (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.