Information on THES1
Basic details
Name: Trichohepatoenteric syndrome 1 | Acronym: THES1
Alt. names: trichohepatoenteric syndrome
Gene: SKIC3 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2010
Last updated on: 2023-05-17 17:25:50 by
Description
It is characterized by intrauterine growth retardation, severe diarrhea, facial dysmorphism, immunodeficiency, and hair abnormalities, mainly trichorrhexis nodosa (capillary fragility). Liver involvement and infections contribute to the poor prognosis of affected patients. Severe, persistent and intractable diarrhea is accompanied by severe malabsorption resulting in early and relentless protein-energy malnutrition and growth retardation. In some cases there may be skin abnormalities, heart abnormalities, and mild intellectual impairment.
Management
Intractable diarrhea requires parenteral (intravenous) nutrition for a variable period of time ranging from a few months to more than a decade, and in some cases, associated with enteral nutrition. Immunoglobulin supplementation may be necessary and antibody production should be monitored after vaccination. In severe liver disease, the only treatment option is a liver graft.
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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 | Intrauterine growth retardation |
33 (94.3%) | 0 (0.0%) | 2 (5.7%) |
| 2 | Hypertelorism |
32 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Villous atrophy |
32 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Trichorrhexis nodosa |
22 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Prominent forehead |
20 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hepatic fibrosis |
14 (51.9%) | 0 (0.0%) | 13 (48.2%) |
| 7 | Broad forehead |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Intractable diarrhea |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hypogammaglobulinemia |
11 (91.7%) | 0 (0.0%) | 1 (8.3%) |
| 10 | Neurodevelopmental delay |
10 (62.5%) | 0 (0.0%) | 6 (37.5%) |
| 11 | Increased mean platelet volume |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 12 | Thrombocytosis |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 13 | Hypospadias |
3 (15.0%) | 0 (0.0%) | 17 (85.0%) |
| 14 | Aortic regurgitation |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 15 | Cafe-au-lait spot |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 16 | Galactosuria |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Splenomegaly |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 18 | Avascular necrosis of the capital femoral epiphysis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 19 | Generalized hypopigmentation |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 20 | Pulmonic stenosis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 21 | Tetralogy of Fallot |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 22 | Ventricular septal defect |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 23 | Hypergalactosemia |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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