Information on THES2
Basic details
Name: Trichohepatoenteric syndrome 2 | Acronym: THES2
Alt. names:
Gene: SKIC2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections can be beneficial; Parenteral nutrition may be required. Refs. PMIDs: 18982349; 22444670; 23679950
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 | Small for gestational age |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Diarrhea |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Trichorrhexis nodosa |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Colitis |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Intrauterine growth retardation |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 6 | Immunodeficiency |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 7 | Premature birth |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 8 | Villous atrophy |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 9 | cirrhosis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Bloody diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Chronic diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Chronic hepatitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Iron deficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Fetal onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Wide nasal bridge |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Woolly hair |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.