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Trichohepatoenteric Syndrome

Also Known As:

Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa; Diarrhea, Syndromic

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Disease Progression
2.	Lymphopenia (Lymphocytopenia)

Experts

1.	Asada, Mayumi: 1 article (01/2022)
2.	Basu, Uttiya: 1 article (01/2022)
3.	Batista, Carolina R: 1 article (01/2022)
4.	Estrella, Jerson: 1 article (01/2022)
5.	Garza, Luis A: 1 article (01/2022)
6.	Gattineni, Jyothsna: 1 article (01/2022)
7.	Gill, Jennifer G: 1 article (01/2022)
8.	Han, Jie: 1 article (01/2022)
9.	Laffleur, Brice: 1 article (01/2022)
10.	Lim, Junghyun: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Trichohepatoenteric Syndrome:

1.	Exosome Multienzyme Ribonuclease ComplexIBA 01/01/2022 - "Patients with trichohepatoenteric syndrome, characterized by RNA exosome pathway component mutations, exhibit lymphopenia, thus demonstrating the importance of ncRNA surveillance in B cell development in humans. "
2.	Sirolimus (Rapamycin)FDA Link 01/01/2022 - "We also propose SKIV2L-associated trichohepatoenteric syndrome (THES) as a new mTORopathy for which sirolimus may be a promising therapy."
3.	Biomarkers (Surrogate Marker)IBA 01/01/2016 - "Finally, we found that this loss of polarity was specific for MVID: tissue samples of patients with Myo5B-independent absorption disorders showed normal polarity but we identified Cdc42 as a potentially essential biomarker for trichohepatoenteric syndrome. "
4.	RNA (Ribonucleic Acid)IBA 01/01/2017 - "Impaired degradation of processed RNAs in humans causes activation of cytoplasmic RNA sensors, leading to Aicardi-Goutières syndrome or trichohepatoenteric syndrome. "
5.	Proteins (Proteins, Gene)FDA Link 04/15/2020 - "Tetratricopeptide repeat protein 37 (TTC37) is a causative gene of trichohepatoenteric syndrome (THES). "
6.	Immunoglobulins (Immunoglobulin)IBA 01/01/2019 - "Ethanol lock and immunoglobulin load: Improving the clinical course of trichohepatoenteric syndrome."
7.	Ethanol (Ethyl Alcohol)IBA 01/01/2019 - "Ethanol lock and immunoglobulin load: Improving the clinical course of trichohepatoenteric syndrome."

Therapies and Procedures

1.	Therapeutics 01/01/2022 - "We also propose SKIV2L-associated trichohepatoenteric syndrome (THES) as a new mTORopathy for which sirolimus may be a promising therapy."